Canonical Allele Identifier: CA916084423

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063360_43063930del , CM000679.2:g.43063360_43063930del	GRCh38
NC_000017.10:g.41215377_41215947del , CM000679.1:g.41215377_41215947del	GRCh37
NC_000017.9:g.38468903_38469473del	NCBI36
NG_005905.2:g.154054_154624del , LRG_292:g.154054_154624del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5093_5163del
ENST00000470026.6:c.5096_5166del
ENST00000473961.6:c.4970_5040del
ENST00000476777.6:c.5090_5160del
ENST00000477152.6:c.5018_5088del
ENST00000478531.6:c.1784_1854del
ENST00000489037.2:c.5018_5088del
ENST00000493919.6:c.1646_1716del
ENST00000494123.6:c.5096_5166del
ENST00000497488.2:c.4208_4278del
ENST00000618469.2:c.5096_5166del
ENST00000634433.2:c.4973_5043del
ENST00000644379.2:c.5162_5232del
ENST00000644555.2:c.1646_1716del
ENST00000652672.2:c.4955_5025del
ENST00000484087.6:c.1658_1728del
ENST00000357654.9:c.5096_5166del
ENST00000471181.7:c.5159_5229del
ENST00000644379.1:c.1483_1553del
ENST00000352993.7:c.1670_1740del
ENST00000357654.7:c.5096_5166del
ENST00000461221.5:c.*4879_*4949del
ENST00000468300.5:c.1784_1854del
ENST00000471181.6:c.5159_5229del
ENST00000478531.5:c.1784_1854del
ENST00000484087.5:c.1409_1479del
ENST00000491747.6:c.1784_1854del
ENST00000493795.5:c.4955_5025del
ENST00000493919.5:c.1646_1716del
ENST00000586385.5:c.26_96del
ENST00000591534.5:c.569_639del
ENST00000591849.5:c.-98-13740_-98-13170del	ENSP00000465347.1:n.-98-13740_-98-13170de...
NM_007294.3:c.5096_5166del , LRG_292t1:c.5096_5166del
NM_007297.3:c.4955_5025del
NM_007298.3:c.1784_1854del
NM_007299.3:c.1784_1854del
NM_007300.3:c.5159_5229del
NR_027676.1:n.5232_5302del
NM_007294.4:c.5096_5166del
NM_007297.4:c.4955_5025del
NM_007299.4:c.1784_1854del
NM_007300.4:c.5159_5229del
NR_027676.2:n.5273_5343del