Canonical Allele Identifier: CA658825014

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 545481
• ClinVar RCV Id: RCV000656464 ; RCV002334217
• dbSNP Id: rs1555581922

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074426_43074427delinsAT , CM000679.2:g.43074426_43074427delinsAT	GRCh38
NC_000017.10:g.41226443_41226444delinsAT , CM000679.1:g.41226443_41226444delinsAT	GRCh37
NC_000017.9:g.38479969_38479970delinsAT	NCBI36
NG_005905.2:g.143557_143558delinsAT , LRG_292:g.143557_143558delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4576_4577delinsAT	ENSP00000417241.2:p.Glu1526Met
ENST00000470026.6:c.4579_4580delinsAT	ENSP00000419274.2:p.Glu1527Met
ENST00000473961.6:c.4453_4454delinsAT	ENSP00000420201.2:p.Glu1485Met
ENST00000476777.6:c.4573_4574delinsAT	ENSP00000417554.2:p.Glu1525Met
ENST00000477152.6:c.4501_4502delinsAT	ENSP00000419988.2:p.Glu1501Met
ENST00000478531.6:c.1267_1268delinsAT	ENSP00000420412.2:p.Glu423Met
ENST00000489037.2:c.4501_4502delinsAT	ENSP00000420781.2:p.Glu1501Met
ENST00000493919.6:c.1129_1130delinsAT	ENSP00000418819.2:p.Glu377Met
ENST00000494123.6:c.4579_4580delinsAT	ENSP00000419103.2:p.Glu1527Met
ENST00000497488.2:c.3691_3692delinsAT	ENSP00000418986.2:p.Glu1231Met
ENST00000618469.2:c.4579_4580delinsAT	ENSP00000478114.2:p.Glu1527Met
ENST00000634433.2:c.4456_4457delinsAT	ENSP00000489431.2:p.Glu1486Met
ENST00000644379.2:c.4645_4646delinsAT	ENSP00000496570.2:p.Glu1549Met
ENST00000644555.2:c.1129_1130delinsAT	ENSP00000494614.2:p.Glu377Met
ENST00000652672.2:c.4438_4439delinsAT	ENSP00000498906.2:p.Glu1480Met
ENST00000484087.6:c.1141_1142delinsAT	ENSP00000419481.2:p.Glu381Met
ENST00000700182.1:c.1186_1187delinsAT	ENSP00000514849.1:p.Glu396Met
ENST00000357654.9:c.4579_4580delinsAT MANE Select	ENSP00000350283.3:p.Glu1527Met
ENST00000471181.7:c.4642_4643delinsAT	ENSP00000418960.2:p.Glu1548Met
ENST00000644379.1:c.966_967delinsAT
ENST00000352993.7:c.1153_1154delinsAT	ENSP00000312236.5:p.Glu385Met
ENST00000357654.7:c.4579_4580delinsAT	ENSP00000350283.3:p.Glu1527Met
ENST00000461221.5:c.*4362_*4363delinsAT	ENSP00000418548.1:n.*4362_*4363delinsAT
ENST00000468300.5:c.1267_1268delinsAT	ENSP00000417148.1:p.Glu423Met
ENST00000471181.6:c.4642_4643delinsAT	ENSP00000418960.2:p.Glu1548Met
ENST00000478531.5:c.1267_1268delinsAT	ENSP00000420412.1:p.Glu423Met
ENST00000484087.5:c.892_893delinsAT	ENSP00000419481.1:p.Glu298Met
ENST00000491747.6:c.1267_1268delinsAT	ENSP00000420705.2:p.Glu423Met
ENST00000493795.5:c.4438_4439delinsAT	ENSP00000418775.1:p.Glu1480Met
ENST00000493919.5:c.1129_1130delinsAT	ENSP00000418819.1:p.Glu377Met
ENST00000586385.5:c.5-10476_5-10475delinsAT	ENSP00000465818.1:n.5-10476_5-10475delinsAT
ENST00000591534.5:c.52_53delinsAT	ENSP00000467329.1:p.Glu18Met
ENST00000591849.5:c.-98-24237_-98-24236delinsAT	ENSP00000465347.1:n.-98-24237_-98-24236delinsAT
NM_007294.3:c.4579_4580delinsAT , LRG_292t1:c.4579_4580delinsAT	NP_009225.1:p.Glu1527Met
NM_007297.3:c.4438_4439delinsAT	NP_009228.2:p.Glu1480Met
NM_007298.3:c.1267_1268delinsAT	NP_009229.2:p.Glu423Met
NM_007299.3:c.1267_1268delinsAT	NP_009230.2:p.Glu423Met
NM_007300.3:c.4642_4643delinsAT	NP_009231.2:p.Glu1548Met
NR_027676.1:n.4715_4716delinsAT
NM_007294.4:c.4579_4580delinsAT MANE Select	NP_009225.1:p.Glu1527Met
NM_007297.4:c.4438_4439delinsAT	NP_009228.2:p.Glu1480Met
NM_007299.4:c.1267_1268delinsAT	NP_009230.2:p.Glu423Met
NM_007300.4:c.4642_4643delinsAT	NP_009231.2:p.Glu1548Met
NR_027676.2:n.4756_4757delinsAT