Canonical Allele Identifier: CA2260762866
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43049302_43049304delinsGGA , CM000679.2:g.43049302_43049304delinsGGA GRCh38
NC_000017.10:g.41201319_41201321delinsGGA , CM000679.1:g.41201319_41201321delinsGGA GRCh37
NC_000017.9:g.38454845_38454847delinsGGA NCBI36
NG_005905.2:g.168680_168682delinsTCC , LRG_292:g.168680_168682delinsTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5330-110_5330-108delinsTCC ENSP00000417241.2:n.5330-110_5330-108delinsTCC
ENST00000470026.6:c.5333-110_5333-108delinsTCC ENSP00000419274.2:n.5333-110_5333-108delinsTCC
ENST00000473961.6:c.5207-110_5207-108delinsTCC ENSP00000420201.2:n.5207-110_5207-108delinsTCC
ENST00000476777.6:c.5327-110_5327-108delinsTCC ENSP00000417554.2:n.5327-110_5327-108delinsTCC
ENST00000477152.6:c.5255-110_5255-108delinsTCC ENSP00000419988.2:n.5255-110_5255-108delinsTCC
ENST00000478531.6:c.2021-110_2021-108delinsTCC ENSP00000420412.2:n.2021-110_2021-108delinsTCC
ENST00000489037.2:c.5255-110_5255-108delinsTCC ENSP00000420781.2:n.5255-110_5255-108delinsTCC
ENST00000493919.6:c.1883-110_1883-108delinsTCC ENSP00000418819.2:n.1883-110_1883-108delinsTCC
ENST00000494123.6:c.5333-110_5333-108delinsTCC ENSP00000419103.2:n.5333-110_5333-108delinsTCC
ENST00000497488.2:c.4445-110_4445-108delinsTCC ENSP00000418986.2:n.4445-110_4445-108delinsTCC
ENST00000618469.2:c.5333-110_5333-108delinsTCC ENSP00000478114.2:n.5333-110_5333-108delinsTCC
ENST00000634433.2:c.5210-110_5210-108delinsTCC ENSP00000489431.2:n.5210-110_5210-108delinsTCC
ENST00000644379.2:c.5399-110_5399-108delinsTCC ENSP00000496570.2:n.5399-110_5399-108delinsTCC
ENST00000644555.2:c.1883-110_1883-108delinsTCC ENSP00000494614.2:n.1883-110_1883-108delinsTCC
ENST00000652672.2:c.5192-110_5192-108delinsTCC ENSP00000498906.2:n.5192-110_5192-108delinsTCC
ENST00000484087.6:c.1895-110_1895-108delinsTCC ENSP00000419481.2:n.1895-110_1895-108delinsTCC
ENST00000700081.1:n.1106_1108delinsTCC
ENST00000357654.9:c.5333-110_5333-108delinsTCC MANE Select ENSP00000350283.3:n.5333-110_5333-108delinsTCC
ENST00000471181.7:c.5396-110_5396-108delinsTCC ENSP00000418960.2:n.5396-110_5396-108delinsTCC
ENST00000644379.1:c.1720-110_1720-108delinsTCC
ENST00000352993.7:c.1907-110_1907-108delinsTCC ENSP00000312236.5:n.1907-110_1907-108delinsTCC
ENST00000357654.7:c.5333-110_5333-108delinsTCC ENSP00000350283.3:n.5333-110_5333-108delinsTCC
ENST00000461221.5:c.*5116-110_*5116-108delinsTCC ENSP00000418548.1:n.*5116-110_*5116-108delinsTCC
ENST00000468300.5:c.2021-1601_2021-1599delinsTCC ENSP00000417148.1:n.2021-1601_2021-1599delinsTCC
ENST00000471181.6:c.5396-110_5396-108delinsTCC ENSP00000418960.2:n.5396-110_5396-108delinsTCC
ENST00000491747.6:c.2021-110_2021-108delinsTCC ENSP00000420705.2:n.2021-110_2021-108delinsTCC
ENST00000493795.5:c.5192-110_5192-108delinsTCC ENSP00000418775.1:n.5192-110_5192-108delinsTCC
ENST00000586385.5:c.263-110_263-108delinsTCC ENSP00000465818.1:n.263-110_263-108delinsTCC
ENST00000591534.5:c.806-110_806-108delinsTCC ENSP00000467329.1:n.806-110_806-108delinsTCC
ENST00000591849.5:c.32-110_32-108delinsTCC ENSP00000465347.1:n.32-110_32-108delinsTCC
NM_007294.3:c.5333-110_5333-108delinsTCC , LRG_292t1:c.5333-110_5333-108delinsTCC NP_009225.1:n.5333-110_5333-108delinsTCC
NM_007297.3:c.5192-110_5192-108delinsTCC NP_009228.2:n.5192-110_5192-108delinsTCC
NM_007298.3:c.2021-110_2021-108delinsTCC NP_009229.2:n.2021-110_2021-108delinsTCC
NM_007299.3:c.2021-1601_2021-1599delinsTCC NP_009230.2:n.2021-1601_2021-1599delinsTCC
NM_007300.3:c.5396-110_5396-108delinsTCC NP_009231.2:n.5396-110_5396-108delinsTCC
NR_027676.1:n.5469-110_5469-108delinsTCC
NM_007294.4:c.5333-110_5333-108delinsTCC MANE Select NP_009225.1:n.5333-110_5333-108delinsTCC
NM_007297.4:c.5192-110_5192-108delinsTCC NP_009228.2:n.5192-110_5192-108delinsTCC
NM_007299.4:c.2021-1601_2021-1599delinsTCC NP_009230.2:n.2021-1601_2021-1599delinsTCC
NM_007300.4:c.5396-110_5396-108delinsTCC NP_009231.2:n.5396-110_5396-108delinsTCC
NR_027676.2:n.5510-110_5510-108delinsTCC