Canonical Allele Identifier: CA2499224422

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082434_43082440del , CM000679.2:g.43082434_43082440del	GRCh38
NC_000017.10:g.41234451_41234457del , CM000679.1:g.41234451_41234457del	GRCh37
NC_000017.9:g.38487977_38487983del	NCBI36
NG_005905.2:g.135546_135552del , LRG_292:g.135546_135552del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4323_4329del	ENSP00000417241.2:p.Asp1441GlufsTer12
ENST00000470026.6:c.4323_4329del	ENSP00000419274.2:p.Asp1441GlufsTer13
ENST00000473961.6:c.4197_4203del	ENSP00000420201.2:p.Asp1399GlufsTer13
ENST00000476777.6:c.4317_4323del	ENSP00000417554.2:p.Asp1439GlufsTer13
ENST00000477152.6:c.4245_4251del	ENSP00000419988.2:p.Asp1415GlufsTer13
ENST00000478531.6:c.1011_1017del	ENSP00000420412.2:p.Asp337GlufsTer13
ENST00000489037.2:c.4245_4251del	ENSP00000420781.2:p.Asp1415GlufsTer13
ENST00000493919.6:c.873_879del	ENSP00000418819.2:p.Asp291GlufsTer13
ENST00000494123.6:c.4323_4329del	ENSP00000419103.2:p.Asp1441GlufsTer13
ENST00000497488.2:c.3435_3441del	ENSP00000418986.2:p.Asp1145GlufsTer13
ENST00000618469.2:c.4323_4329del	ENSP00000478114.2:p.Asp1441GlufsTer13
ENST00000634433.2:c.4200_4206del	ENSP00000489431.2:p.Asp1400GlufsTer13
ENST00000644379.2:c.4323_4329del	ENSP00000496570.2:p.Asp1441GlufsTer?
ENST00000644555.2:c.873_879del	ENSP00000494614.2:p.Asp291GlufsTer13
ENST00000652672.2:c.4182_4188del	ENSP00000498906.2:p.Asp1394GlufsTer13
ENST00000484087.6:c.888_894del	ENSP00000419481.2:p.Asp296GlufsTer12
ENST00000700182.1:c.933_939del	ENSP00000514849.1:p.Asp311GlufsTer12
ENST00000357654.9:c.4323_4329del MANE Select	ENSP00000350283.3:p.Asp1441GlufsTer13
ENST00000471181.7:c.4323_4329del	ENSP00000418960.2:p.Asp1441GlufsTer?
ENST00000644379.1:c.644_650del
ENST00000352993.7:c.897_903del	ENSP00000312236.5:p.Asp299GlufsTer13
ENST00000357654.7:c.4323_4329del	ENSP00000350283.3:p.Asp1441GlufsTer13
ENST00000461221.5:c.*4106_*4112del	ENSP00000418548.1:n.*4106_*4112del
ENST00000461574.1:c.617_623del
ENST00000468300.5:c.1014_1020del	ENSP00000417148.1:p.Asp338GlufsTer12
ENST00000471181.6:c.4323_4329del	ENSP00000418960.2:p.Asp1441GlufsTer?
ENST00000478531.5:c.1011_1017del	ENSP00000420412.1:p.Asp337GlufsTer13
ENST00000484087.5:c.636_642del	ENSP00000419481.1:p.Asp212GlufsTer13
ENST00000487825.5:c.639_645del	ENSP00000418212.1:p.Asp213GlufsTer13
ENST00000491747.6:c.1014_1020del	ENSP00000420705.2:p.Asp338GlufsTer12
ENST00000493795.5:c.4182_4188del	ENSP00000418775.1:p.Asp1394GlufsTer13
ENST00000493919.5:c.873_879del	ENSP00000418819.1:p.Asp291GlufsTer13
ENST00000586385.5:c.5-18487_5-18481del	ENSP00000465818.1:n.5-18487_5-18481del
ENST00000591534.5:c.-43-7917_-43-7911del	ENSP00000467329.1:n.-43-7917_-43-7911del
ENST00000591849.5:c.-98-32248_-98-32242del	ENSP00000465347.1:n.-98-32248_-98-32242de...
ENST00000621897.1:n.217_223del
NM_007294.3:c.4323_4329del , LRG_292t1:c.4323_4329del	NP_009225.1:p.Asp1441GlufsTer13
NM_007297.3:c.4182_4188del	NP_009228.2:p.Asp1394GlufsTer13
NM_007298.3:c.1014_1020del	NP_009229.2:p.Asp338GlufsTer12
NM_007299.3:c.1014_1020del	NP_009230.2:p.Asp338GlufsTer12
NM_007300.3:c.4323_4329del	NP_009231.2:p.Asp1441GlufsTer?
NR_027676.1:n.4459_4465del
NM_007294.4:c.4323_4329del MANE Select	NP_009225.1:p.Asp1441GlufsTer13
NM_007297.4:c.4182_4188del	NP_009228.2:p.Asp1394GlufsTer13
NM_007299.4:c.1014_1020del	NP_009230.2:p.Asp338GlufsTer12
NM_007300.4:c.4323_4329del	NP_009231.2:p.Asp1441GlufsTer?
NR_027676.2:n.4500_4506del