Canonical Allele Identifier: CA2260783031
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092535_43092536delinsAG , CM000679.2:g.43092535_43092536delinsAG GRCh38
NC_000017.10:g.41244552_41244553delinsAG , CM000679.1:g.41244552_41244553delinsAG GRCh37
NC_000017.9:g.38498078_38498079delinsAG NCBI36
NG_005905.2:g.125448_125449delinsCT , LRG_292:g.125448_125449delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3059_3060delinsCT
ENST00000461574.2:c.2995_2996delinsCT ENSP00000417241.2:p.Leu999=
ENST00000470026.6:c.2995_2996delinsCT ENSP00000419274.2:p.Leu999=
ENST00000473961.6:c.2869_2870delinsCT ENSP00000420201.2:p.Leu957=
ENST00000476777.6:c.2992_2993delinsCT ENSP00000417554.2:p.Leu998=
ENST00000477152.6:c.2917_2918delinsCT ENSP00000419988.2:p.Leu973=
ENST00000478531.6:c.785-1504_785-1503delinsCT ENSP00000420412.2:n.785-1504_785-1503delinsCT
ENST00000489037.2:c.2917_2918delinsCT ENSP00000420781.2:p.Leu973=
ENST00000493919.6:c.647-1504_647-1503delinsCT ENSP00000418819.2:n.647-1504_647-1503delinsCT
ENST00000494123.6:c.2995_2996delinsCT ENSP00000419103.2:p.Leu999=
ENST00000497488.2:c.2107_2108delinsCT ENSP00000418986.2:p.Leu703=
ENST00000618469.2:c.2995_2996delinsCT ENSP00000478114.2:p.Leu999=
ENST00000634433.2:c.2872_2873delinsCT ENSP00000489431.2:p.Leu958=
ENST00000644379.2:c.2995_2996delinsCT ENSP00000496570.2:p.Leu999=
ENST00000644555.2:c.647-1504_647-1503delinsCT ENSP00000494614.2:n.647-1504_647-1503delinsCT
ENST00000652672.2:c.2854_2855delinsCT ENSP00000498906.2:p.Leu952=
ENST00000484087.6:c.665-1504_665-1503delinsCT ENSP00000419481.2:n.665-1504_665-1503delinsCT
ENST00000700182.1:c.707-1504_707-1503delinsCT ENSP00000514849.1:n.707-1504_707-1503delinsCT
ENST00000357654.9:c.2995_2996delinsCT MANE Select ENSP00000350283.3:p.Leu999=
ENST00000471181.7:c.2995_2996delinsCT ENSP00000418960.2:p.Leu999=
ENST00000352993.7:c.671-1504_671-1503delinsCT ENSP00000312236.5:n.671-1504_671-1503delinsCT
ENST00000354071.7:c.2995_2996delinsCT ENSP00000326002.7:p.Leu999=
ENST00000357654.7:c.2995_2996delinsCT ENSP00000350283.3:p.Leu999=
ENST00000461221.5:c.*2778_*2779delinsCT ENSP00000418548.1:n.*2778_*2779delinsCT
ENST00000468300.5:c.788-1504_788-1503delinsCT ENSP00000417148.1:n.788-1504_788-1503delinsCT
ENST00000471181.6:c.2995_2996delinsCT ENSP00000418960.2:p.Leu999=
ENST00000478531.5:c.785-1504_785-1503delinsCT ENSP00000420412.1:n.785-1504_785-1503delinsCT
ENST00000484087.5:c.410-1504_410-1503delinsCT ENSP00000419481.1:n.410-1504_410-1503delinsCT
ENST00000487825.5:c.413-1504_413-1503delinsCT ENSP00000418212.1:n.413-1504_413-1503delinsCT
ENST00000491747.6:c.788-1504_788-1503delinsCT ENSP00000420705.2:n.788-1504_788-1503delinsCT
ENST00000493795.5:c.2854_2855delinsCT ENSP00000418775.1:p.Leu952=
ENST00000493919.5:c.647-1504_647-1503delinsCT ENSP00000418819.1:n.647-1504_647-1503delinsCT
ENST00000586385.5:c.5-28585_5-28584delinsCT ENSP00000465818.1:n.5-28585_5-28584delinsCT
ENST00000591534.5:c.-43-18015_-43-18014delinsCT ENSP00000467329.1:n.-43-18015_-43-18014delinsCT
ENST00000591849.5:c.-99+32735_-99+32736delinsCT ENSP00000465347.1:n.-99+32735_-99+32736delinsCT
NM_007294.3:c.2995_2996delinsCT , LRG_292t1:c.2995_2996delinsCT NP_009225.1:p.Leu999=
NM_007297.3:c.2854_2855delinsCT NP_009228.2:p.Leu952=
NM_007298.3:c.788-1504_788-1503delinsCT NP_009229.2:n.788-1504_788-1503delinsCT
NM_007299.3:c.788-1504_788-1503delinsCT NP_009230.2:n.788-1504_788-1503delinsCT
NM_007300.3:c.2995_2996delinsCT NP_009231.2:p.Leu999=
NR_027676.1:n.3131_3132delinsCT
NM_007294.4:c.2995_2996delinsCT MANE Select NP_009225.1:p.Leu999=
NM_007297.4:c.2854_2855delinsCT NP_009228.2:p.Leu952=
NM_007299.4:c.788-1504_788-1503delinsCT NP_009230.2:n.788-1504_788-1503delinsCT
NM_007300.4:c.2995_2996delinsCT NP_009231.2:p.Leu999=
NR_027676.2:n.3172_3173delinsCT