Canonical Allele Identifier: CA1139771080

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2680212
• ClinVar RCV Id: RCV003460222

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43124047_43124048delinsCA , CM000679.2:g.43124047_43124048delinsCA	GRCh38
NC_000017.10:g.41276064_41276065delinsCA , CM000679.1:g.41276064_41276065delinsCA	GRCh37
NC_000017.9:g.38529590_38529591delinsCA	NCBI36
NG_005905.2:g.93936_93937delinsTG , LRG_292:g.93936_93937delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.113_114delinsTG
ENST00000461574.2:c.49_50delinsTG	ENSP00000417241.2:p.Ala17Cys
ENST00000470026.6:c.49_50delinsTG	ENSP00000419274.2:p.Ala17Cys
ENST00000473961.6:c.49_50delinsTG	ENSP00000420201.2:p.Ala17Cys
ENST00000476777.6:c.49_50delinsTG	ENSP00000417554.2:p.Ala17Cys
ENST00000477152.6:c.49_50delinsTG	ENSP00000419988.2:p.Ala17Cys
ENST00000478531.6:c.49_50delinsTG	ENSP00000420412.2:p.Ala17Cys
ENST00000489037.2:c.49_50delinsTG	ENSP00000420781.2:p.Ala17Cys
ENST00000493919.6:c.-39_-38delinsTG	ENSP00000418819.2:n.-39_-38delinsTG
ENST00000494123.6:c.49_50delinsTG	ENSP00000419103.2:p.Ala17Cys
ENST00000497488.2:c.-219+1223_-219+1224delinsTG	ENSP00000418986.2:n.-219+1223_-219+1224delinsTG
ENST00000618469.2:c.49_50delinsTG	ENSP00000478114.2:p.Ala17Cys
ENST00000634433.2:c.49_50delinsTG	ENSP00000489431.2:p.Ala17Cys
ENST00000644379.2:c.49_50delinsTG	ENSP00000496570.2:p.Ala17Cys
ENST00000644555.2:c.-238_-237delinsTG	ENSP00000494614.2:n.-238_-237delinsTG
ENST00000652672.2:c.-212_-211delinsTG	ENSP00000498906.2:n.-212_-211delinsTG
ENST00000484087.6:c.49_50delinsTG	ENSP00000419481.2:p.Ala17Cys
ENST00000700182.1:c.49_50delinsTG	ENSP00000514849.1:p.Ala17Cys
ENST00000700183.1:c.49_50delinsTG	ENSP00000514850.1:p.Ala17Cys
ENST00000700184.1:n.292_293delinsTG
ENST00000700185.1:n.168_169delinsTG
ENST00000700186.1:n.168_169delinsTG
ENST00000357654.9:c.49_50delinsTG MANE Select	ENSP00000350283.3:p.Ala17Cys
ENST00000471181.7:c.49_50delinsTG	ENSP00000418960.2:p.Ala17Cys
ENST00000642945.1:c.49_50delinsTG	ENSP00000495897.1:p.Ala17Cys
ENST00000644555.1:c.-238_-237delinsTG	ENSP00000494614.1:n.-238_-237delinsTG
ENST00000652672.1:c.-212_-211delinsTG	ENSP00000498906.1:n.-212_-211delinsTG
ENST00000352993.7:c.49_50delinsTG	ENSP00000312236.5:p.Ala17Cys
ENST00000354071.7:c.49_50delinsTG	ENSP00000326002.7:p.Ala17Cys
ENST00000357654.7:c.49_50delinsTG	ENSP00000350283.3:p.Ala17Cys
ENST00000461221.5:c.49_50delinsTG	ENSP00000418548.1:p.Ala17Cys
ENST00000461798.5:c.49_50delinsTG	ENSP00000417988.1:p.Ala17Cys
ENST00000468300.5:c.49_50delinsTG	ENSP00000417148.1:p.Ala17Cys
ENST00000470026.5:c.49_50delinsTG	ENSP00000419274.1:p.Ala17Cys
ENST00000471181.6:c.49_50delinsTG	ENSP00000418960.2:p.Ala17Cys
ENST00000476777.5:c.49_50delinsTG	ENSP00000417554.1:p.Ala17Cys
ENST00000477152.5:c.49_50delinsTG	ENSP00000419988.1:p.Ala17Cys
ENST00000478531.5:c.49_50delinsTG	ENSP00000420412.1:p.Ala17Cys
ENST00000489037.1:c.49_50delinsTG	ENSP00000420781.1:p.Ala17Cys
ENST00000491747.6:c.49_50delinsTG	ENSP00000420705.2:p.Ala17Cys
ENST00000492859.5:c.49_50delinsTG	ENSP00000420253.1:p.Ala17Cys
ENST00000493795.5:c.-39_-38delinsTG	ENSP00000418775.1:n.-39_-38delinsTG
ENST00000493919.5:c.-39_-38delinsTG	ENSP00000418819.1:n.-39_-38delinsTG
ENST00000494123.5:c.49_50delinsTG	ENSP00000419103.1:p.Ala17Cys
ENST00000497488.1:c.-219+1223_-219+1224delinsTG	ENSP00000418986.1:n.-219+1223_-219+1224delinsTG
ENST00000586385.5:c.4+1134_4+1135delinsTG	ENSP00000465818.1:n.4+1134_4+1135delinsTG
ENST00000591534.5:c.-44+1223_-44+1224delinsTG	ENSP00000467329.1:n.-44+1223_-44+1224delinsTG
ENST00000591849.5:c.-99+1223_-99+1224delinsTG	ENSP00000465347.1:n.-99+1223_-99+1224delinsTG
ENST00000618469.1:c.49_50delinsTG	ENSP00000478114.1:p.Ala17Cys
ENST00000634433.1:c.49_50delinsTG	ENSP00000489431.1:p.Ala17Cys
NM_007294.3:c.49_50delinsTG , LRG_292t1:c.49_50delinsTG	NP_009225.1:p.Ala17Cys
NM_007297.3:c.-39_-38delinsTG	NP_009228.2:n.-39_-38delinsTG
NM_007298.3:c.49_50delinsTG	NP_009229.2:p.Ala17Cys
NM_007299.3:c.49_50delinsTG	NP_009230.2:p.Ala17Cys
NM_007300.3:c.49_50delinsTG	NP_009231.2:p.Ala17Cys
NR_027676.1:n.210_211delinsTG
NM_007294.4:c.49_50delinsTG MANE Select	NP_009225.1:p.Ala17Cys
NM_007297.4:c.-39_-38delinsTG	NP_009228.2:n.-39_-38delinsTG
NM_007299.4:c.49_50delinsTG	NP_009230.2:p.Ala17Cys
NM_007300.4:c.49_50delinsTG	NP_009231.2:p.Ala17Cys
NR_027676.2:n.251_252delinsTG