Canonical Allele Identifier: CA10584575
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 246362
ClinVar RCV Id: RCV000235873 RCV000463705 RCV001189625 RCV003389325
dbSNP Id: rs879254224
MyVariant Identifiers: chr17:g.41251910_41251919del (hg19) chr17:g.43099893_43099902del (hg38)
ERepo: CA10584575/MONDO:0011450/092 CA10584575/MONDO:0700268/092
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43099895_43099904del , CM000679.2:g.43099895_43099904del GRCh38
NC_000017.10:g.41251912_41251921del , CM000679.1:g.41251912_41251921del GRCh37
NC_000017.9:g.38505438_38505447del NCBI36
NG_005905.2:g.118082_118091del , LRG_292:g.118082_118091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.506-22_506-13del
ENST00000461574.2:c.442-22_442-13del ENSP00000417241.2:n.442-22_442-13del
ENST00000470026.6:c.442-22_442-13del ENSP00000419274.2:n.442-22_442-13del
ENST00000473961.6:c.442-25_442-16del ENSP00000420201.2:n.442-25_442-16del
ENST00000476777.6:c.442-25_442-16del ENSP00000417554.2:n.442-25_442-16del
ENST00000477152.6:c.364-22_364-13del ENSP00000419988.2:n.364-22_364-13del
ENST00000478531.6:c.442-25_442-16del ENSP00000420412.2:n.442-25_442-16del
ENST00000489037.2:c.364-22_364-13del ENSP00000420781.2:n.364-22_364-13del
ENST00000493919.6:c.301-22_301-13del ENSP00000418819.2:n.301-22_301-13del
ENST00000494123.6:c.442-22_442-13del ENSP00000419103.2:n.442-22_442-13del
ENST00000497488.2:c.-218-5042_-218-5033del ENSP00000418986.2:n.-218-5042_-218-5033del
ENST00000618469.2:c.442-22_442-13del ENSP00000478114.2:n.442-22_442-13del
ENST00000634433.2:c.442-22_442-13del ENSP00000489431.2:n.442-22_442-13del
ENST00000644379.2:c.442-22_442-13del ENSP00000496570.2:n.442-22_442-13del
ENST00000644555.2:c.301-22_301-13del ENSP00000494614.2:n.301-22_301-13del
ENST00000652672.2:c.301-22_301-13del ENSP00000498906.2:n.301-22_301-13del
ENST00000484087.6:c.442-22_442-13del ENSP00000419481.2:n.442-22_442-13del
ENST00000700182.1:c.364-25_364-16del ENSP00000514849.1:n.364-25_364-16del
ENST00000700183.1:c.*356-22_*356-13del ENSP00000514850.1:n.*356-22_*356-13del
ENST00000700184.1:n.685-25_685-16del
ENST00000357654.9:c.442-22_442-13del MANE Select ENSP00000350283.3:n.442-22_442-13del
ENST00000471181.7:c.442-22_442-13del ENSP00000418960.2:n.442-22_442-13del
ENST00000642945.1:c.*316-22_*316-13del ENSP00000495897.1:n.*316-22_*316-13del
ENST00000652672.1:c.301-22_301-13del ENSP00000498906.1:n.301-22_301-13del
ENST00000352993.7:c.442-22_442-13del ENSP00000312236.5:n.442-22_442-13del
ENST00000354071.7:c.442-22_442-13del ENSP00000326002.7:n.442-22_442-13del
ENST00000357654.7:c.442-22_442-13del ENSP00000350283.3:n.442-22_442-13del
ENST00000461221.5:c.*228-25_*228-16del ENSP00000418548.1:n.*228-25_*228-16del
ENST00000461798.5:c.*228-22_*228-13del ENSP00000417988.1:n.*228-22_*228-13del
ENST00000468300.5:c.442-22_442-13del ENSP00000417148.1:n.442-22_442-13del
ENST00000470026.5:c.442-22_442-13del ENSP00000419274.1:n.442-22_442-13del
ENST00000471181.6:c.442-22_442-13del ENSP00000418960.2:n.442-22_442-13del
ENST00000473961.5:c.165-25_165-16del
ENST00000476777.5:c.442-25_442-16del ENSP00000417554.1:n.442-25_442-16del
ENST00000477152.5:c.364-22_364-13del ENSP00000419988.1:n.364-22_364-13del
ENST00000478531.5:c.442-25_442-16del ENSP00000420412.1:n.442-25_442-16del
ENST00000484087.5:c.190-25_190-16del ENSP00000419481.1:n.190-25_190-16del
ENST00000487825.5:c.190-22_190-13del ENSP00000418212.1:n.190-22_190-13del
ENST00000491747.6:c.442-22_442-13del ENSP00000420705.2:n.442-22_442-13del
ENST00000492859.5:c.*378-22_*378-13del ENSP00000420253.1:n.*378-22_*378-13del
ENST00000493795.5:c.301-22_301-13del ENSP00000418775.1:n.301-22_301-13del
ENST00000493919.5:c.301-22_301-13del ENSP00000418819.1:n.301-22_301-13del
ENST00000494123.5:c.442-22_442-13del ENSP00000419103.1:n.442-22_442-13del
ENST00000497488.1:c.-218-5042_-218-5033del ENSP00000418986.1:n.-218-5042_-218-5033del
ENST00000586385.5:c.4+25280_4+25289del ENSP00000465818.1:n.4+25280_4+25289del
ENST00000591534.5:c.-44+25369_-43-25372del ENSP00000467329.1:n.-44+25369_-43-25372del
ENST00000591849.5:c.-99+25369_-99+25378del ENSP00000465347.1:n.-99+25369_-99+25378del
ENST00000634433.1:c.442-22_442-13del ENSP00000489431.1:n.442-22_442-13del
NM_007294.3:c.442-22_442-13del , LRG_292t1:c.442-22_442-13del NP_009225.1:n.442-22_442-13del
NM_007297.3:c.301-22_301-13del NP_009228.2:n.301-22_301-13del
NM_007298.3:c.442-22_442-13del NP_009229.2:n.442-22_442-13del
NM_007299.3:c.442-22_442-13del NP_009230.2:n.442-22_442-13del
NM_007300.3:c.442-22_442-13del NP_009231.2:n.442-22_442-13del
NR_027676.1:n.581-25_581-16del
NM_007294.4:c.442-22_442-13del MANE Select NP_009225.1:n.442-22_442-13del
NM_007297.4:c.301-22_301-13del NP_009228.2:n.301-22_301-13del
NM_007299.4:c.442-22_442-13del NP_009230.2:n.442-22_442-13del
NM_007300.4:c.442-22_442-13del NP_009231.2:n.442-22_442-13del
NR_027676.2:n.622-25_622-16del
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