Canonical Allele Identifier: CA2573054438
Community Standard Title: NM_007294.4(BRCA1):c.5129_5137del (p.Gly1710_Trp1712del)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063890_43063898del , CM000679.2:g.43063890_43063898del GRCh38
NC_000017.10:g.41215907_41215915del , CM000679.1:g.41215907_41215915del GRCh37
NC_000017.9:g.38469433_38469441del NCBI36
NG_005905.2:g.154087_154095del , LRG_292:g.154087_154095del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5129_5137del MANE Select NP_009225.1:p.Gly1710_Trp1712del
ENST00000357654.9:c.5129_5137del MANE Select ENSP00000350283.3:p.Gly1710_Trp1712del
NM_007294.3:c.5129_5137del , LRG_292t1:c.5129_5137del NP_009225.1:p.Gly1710_Trp1712del
NM_007297.3:c.4988_4996del NP_009228.2:p.Gly1663_Trp1665del
NM_007297.4:c.4988_4996del NP_009228.2:p.Gly1663_Trp1665del
NM_007298.3:c.1817_1825del NP_009229.2:p.Gly606_Trp608del
NM_007299.3:c.1817_1825del NP_009230.2:p.Gly606_Trp608del
NM_007299.4:c.1817_1825del NP_009230.2:p.Gly606_Trp608del
NM_007300.3:c.5192_5200del NP_009231.2:p.Gly1731_Trp1733del
NM_007300.4:c.5192_5200del NP_009231.2:p.Gly1731_Trp1733del
NR_027676.1:n.5265_5273del
NR_027676.2:n.5306_5314del
ENST00000352993.7:c.1703_1711del ENSP00000312236.5:p.Gly568_Trp570del
ENST00000357654.7:c.5129_5137del ENSP00000350283.3:p.Gly1710_Trp1712del
ENST00000461221.5:c.*4912_*4920del ENSP00000418548.1:n.*4912_*4920del
ENST00000461574.2:c.5126_5134del ENSP00000417241.2:p.Gly1709_Trp1711del
ENST00000468300.5:c.1817_1825del ENSP00000417148.1:p.Gly606_Trp608del
ENST00000470026.6:c.5129_5137del ENSP00000419274.2:p.Gly1710_Trp1712del
ENST00000471181.6:c.5192_5200del ENSP00000418960.2:p.Gly1731_Trp1733del
ENST00000471181.7:c.5192_5200del ENSP00000418960.2:p.Gly1731_Trp1733del
ENST00000473961.6:c.5003_5011del ENSP00000420201.2:p.Gly1668_Trp1670del
ENST00000476777.6:c.5123_5131del ENSP00000417554.2:p.Gly1708_Trp1710del
ENST00000477152.6:c.5051_5059del ENSP00000419988.2:p.Gly1684_Trp1686del
ENST00000478531.5:c.1817_1825del ENSP00000420412.1:p.Gly606_Trp608del
ENST00000478531.6:c.1817_1825del ENSP00000420412.2:p.Gly606_Trp608del
ENST00000484087.5:c.1442_1450del ENSP00000419481.1:p.Gly481_Trp483del
ENST00000484087.6:c.1691_1699del ENSP00000419481.2:p.Gly564_Trp566del
ENST00000489037.2:c.5051_5059del ENSP00000420781.2:p.Gly1684_Trp1686del
ENST00000491747.6:c.1817_1825del ENSP00000420705.2:p.Gly606_Trp608del
ENST00000493795.5:c.4988_4996del ENSP00000418775.1:p.Gly1663_Trp1665del
ENST00000493919.5:c.1679_1687del ENSP00000418819.1:p.Gly560_Trp562del
ENST00000493919.6:c.1679_1687del ENSP00000418819.2:p.Gly560_Trp562del
ENST00000494123.6:c.5129_5137del ENSP00000419103.2:p.Gly1710_Trp1712del
ENST00000497488.2:c.4241_4249del ENSP00000418986.2:p.Gly1414_Trp1416del
ENST00000586385.5:c.59_67del ENSP00000465818.1:p.Gly20_Trp22del
ENST00000591534.5:c.602_610del ENSP00000467329.1:p.Gly201_Trp203del
ENST00000591849.5:c.-98-13707_-98-13699del ENSP00000465347.1:n.-98-13707_-98-13699del
ENST00000618469.2:c.5129_5137del ENSP00000478114.2:p.Gly1710_Trp1712del
ENST00000634433.2:c.5006_5014del ENSP00000489431.2:p.Gly1669_Trp1671del
ENST00000644379.1:c.1516_1524del
ENST00000644379.2:c.5195_5203del ENSP00000496570.2:p.Gly1732_Trp1734del
ENST00000644555.2:c.1679_1687del ENSP00000494614.2:p.Gly560_Trp562del
ENST00000652672.2:c.4988_4996del ENSP00000498906.2:p.Gly1663_Trp1665del