Canonical Allele Identifier: CA2638061048

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43051071-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051074_43051076del , CM000679.2:g.43051074_43051076del	GRCh38
NC_000017.10:g.41203091_41203093del , CM000679.1:g.41203091_41203093del	GRCh37
NC_000017.9:g.38456617_38456619del	NCBI36
NG_005905.2:g.166910_166912del , LRG_292:g.166910_166912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5318_5320del	ENSP00000417241.2:p.Asn1773del
ENST00000470026.6:c.5321_5323del	ENSP00000419274.2:p.Asn1774del
ENST00000473961.6:c.5195_5197del	ENSP00000420201.2:p.Asn1732del
ENST00000476777.6:c.5315_5317del	ENSP00000417554.2:p.Asn1772del
ENST00000477152.6:c.5243_5245del	ENSP00000419988.2:p.Asn1748del
ENST00000478531.6:c.2009_2011del	ENSP00000420412.2:p.Asn670del
ENST00000489037.2:c.5243_5245del	ENSP00000420781.2:p.Asn1748del
ENST00000493919.6:c.1871_1873del	ENSP00000418819.2:p.Asn624del
ENST00000494123.6:c.5321_5323del	ENSP00000419103.2:p.Asn1774del
ENST00000497488.2:c.4433_4435del	ENSP00000418986.2:p.Asn1478del
ENST00000618469.2:c.5321_5323del	ENSP00000478114.2:p.Asn1774del
ENST00000634433.2:c.5198_5200del	ENSP00000489431.2:p.Asn1733del
ENST00000644379.2:c.5387_5389del	ENSP00000496570.2:p.Asn1796del
ENST00000644555.2:c.1871_1873del	ENSP00000494614.2:p.Asn624del
ENST00000652672.2:c.5180_5182del	ENSP00000498906.2:p.Asn1727del
ENST00000484087.6:c.1883_1885del	ENSP00000419481.2:p.Asn628del
ENST00000357654.9:c.5321_5323del MANE Select	ENSP00000350283.3:p.Asn1774del
ENST00000471181.7:c.5384_5386del	ENSP00000418960.2:p.Asn1795del
ENST00000644379.1:c.1708_1710del
ENST00000352993.7:c.1895_1897del	ENSP00000312236.5:p.Asn632del
ENST00000357654.7:c.5321_5323del	ENSP00000350283.3:p.Asn1774del
ENST00000461221.5:c.*5104_*5106del	ENSP00000418548.1:n.*5104_*5106del
ENST00000468300.5:c.2009_2011del	ENSP00000417148.1:p.Asn670del
ENST00000471181.6:c.5384_5386del	ENSP00000418960.2:p.Asn1795del
ENST00000491747.6:c.2009_2011del	ENSP00000420705.2:p.Asn670del
ENST00000493795.5:c.5180_5182del	ENSP00000418775.1:p.Asn1727del
ENST00000586385.5:c.251_253del	ENSP00000465818.1:p.Asn84del
ENST00000591534.5:c.794_796del	ENSP00000467329.1:p.Asn265del
ENST00000591849.5:c.-98-884_-98-882del	ENSP00000465347.1:n.-98-884_-98-882del
NM_007294.3:c.5321_5323del , LRG_292t1:c.5321_5323del	NP_009225.1:p.Asn1774del
NM_007297.3:c.5180_5182del	NP_009228.2:p.Asn1727del
NM_007298.3:c.2009_2011del	NP_009229.2:p.Asn670del
NM_007299.3:c.2009_2011del	NP_009230.2:p.Asn670del
NM_007300.3:c.5384_5386del	NP_009231.2:p.Asn1795del
NR_027676.1:n.5457_5459del
NM_007294.4:c.5321_5323del MANE Select	NP_009225.1:p.Asn1774del
NM_007297.4:c.5180_5182del	NP_009228.2:p.Asn1727del
NM_007299.4:c.2009_2011del	NP_009230.2:p.Asn670del
NM_007300.4:c.5384_5386del	NP_009231.2:p.Asn1795del
NR_027676.2:n.5498_5500del