Canonical Allele Identifier: CA2733640526

Gene: BRCA1

Linked Data

• dbSNP Id: rs8176152

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094876_43094877del , CM000679.2:g.43094876_43094877del	GRCh38
NC_000017.10:g.41246893_41246894del , CM000679.1:g.41246893_41246894del	GRCh37
NC_000017.9:g.38500419_38500420del	NCBI36
NG_005905.2:g.123110_123111del , LRG_292:g.123110_123111del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.735-14_735-13del
ENST00000461574.2:c.671-14_671-13del	ENSP00000417241.2:n.671-14_671-13del
ENST00000470026.6:c.671-14_671-13del	ENSP00000419274.2:n.671-14_671-13del
ENST00000473961.6:c.545-14_545-13del	ENSP00000420201.2:n.545-14_545-13del
ENST00000476777.6:c.668-14_668-13del	ENSP00000417554.2:n.668-14_668-13del
ENST00000477152.6:c.593-14_593-13del	ENSP00000419988.2:n.593-14_593-13del
ENST00000478531.6:c.668-14_668-13del	ENSP00000420412.2:n.668-14_668-13del
ENST00000489037.2:c.593-14_593-13del	ENSP00000420781.2:n.593-14_593-13del
ENST00000493919.6:c.530-14_530-13del	ENSP00000418819.2:n.530-14_530-13del
ENST00000494123.6:c.671-14_671-13del	ENSP00000419103.2:n.671-14_671-13del
ENST00000497488.2:c.-218-14_-218-13del	ENSP00000418986.2:n.-218-14_-218-13del
ENST00000618469.2:c.671-14_671-13del	ENSP00000478114.2:n.671-14_671-13del
ENST00000634433.2:c.548-14_548-13del	ENSP00000489431.2:n.548-14_548-13del
ENST00000644379.2:c.671-14_671-13del	ENSP00000496570.2:n.671-14_671-13del
ENST00000644555.2:c.530-14_530-13del	ENSP00000494614.2:n.530-14_530-13del
ENST00000652672.2:c.530-14_530-13del	ENSP00000498906.2:n.530-14_530-13del
ENST00000484087.6:c.548-14_548-13del	ENSP00000419481.2:n.548-14_548-13del
ENST00000700182.1:c.590-14_590-13del	ENSP00000514849.1:n.590-14_590-13del
ENST00000700183.1:c.*679-14_*679-13del	ENSP00000514850.1:n.*679-14_*679-13del
ENST00000357654.9:c.671-14_671-13del MANE Select	ENSP00000350283.3:n.671-14_671-13del
ENST00000471181.7:c.671-14_671-13del	ENSP00000418960.2:n.671-14_671-13del
ENST00000642945.1:c.*545-14_*545-13del	ENSP00000495897.1:n.*545-14_*545-13del
ENST00000652672.1:c.530-14_530-13del	ENSP00000498906.1:n.530-14_530-13del
ENST00000352993.7:c.670+972_670+973del	ENSP00000312236.5:n.670+972_670+973del
ENST00000354071.7:c.671-14_671-13del	ENSP00000326002.7:n.671-14_671-13del
ENST00000357654.7:c.671-14_671-13del	ENSP00000350283.3:n.671-14_671-13del
ENST00000412061.3:c.22-14_22-13del
ENST00000461221.5:c.*454-14_*454-13del	ENSP00000418548.1:n.*454-14_*454-13del
ENST00000468300.5:c.671-14_671-13del	ENSP00000417148.1:n.671-14_671-13del
ENST00000470026.5:c.671-14_671-13del	ENSP00000419274.1:n.671-14_671-13del
ENST00000471181.6:c.671-14_671-13del	ENSP00000418960.2:n.671-14_671-13del
ENST00000473961.5:c.268-14_268-13del
ENST00000477152.5:c.593-14_593-13del	ENSP00000419988.1:n.593-14_593-13del
ENST00000478531.5:c.668-14_668-13del	ENSP00000420412.1:n.668-14_668-13del
ENST00000484087.5:c.293-14_293-13del	ENSP00000419481.1:n.293-14_293-13del
ENST00000487825.5:c.296-14_296-13del	ENSP00000418212.1:n.296-14_296-13del
ENST00000491747.6:c.671-14_671-13del	ENSP00000420705.2:n.671-14_671-13del
ENST00000492859.5:c.*607-14_*607-13del	ENSP00000420253.1:n.*607-14_*607-13del
ENST00000493795.5:c.530-14_530-13del	ENSP00000418775.1:n.530-14_530-13del
ENST00000493919.5:c.530-14_530-13del	ENSP00000418819.1:n.530-14_530-13del
ENST00000494123.5:c.671-14_671-13del	ENSP00000419103.1:n.671-14_671-13del
ENST00000497488.1:c.-218-14_-218-13del	ENSP00000418986.1:n.-218-14_-218-13del
ENST00000586385.5:c.4+30308_4+30309del	ENSP00000465818.1:n.4+30308_4+30309del
ENST00000591534.5:c.-43-20353_-43-20352del	ENSP00000467329.1:n.-43-20353_-43-20352de...
ENST00000591849.5:c.-99+30397_-99+30398del	ENSP00000465347.1:n.-99+30397_-99+30398de...
ENST00000634433.1:c.548-14_548-13del	ENSP00000489431.1:n.548-14_548-13del
NM_007294.3:c.671-14_671-13del , LRG_292t1:c.671-14_671-13del	NP_009225.1:n.671-14_671-13del
NM_007297.3:c.530-14_530-13del	NP_009228.2:n.530-14_530-13del
NM_007298.3:c.671-14_671-13del	NP_009229.2:n.671-14_671-13del
NM_007299.3:c.671-14_671-13del	NP_009230.2:n.671-14_671-13del
NM_007300.3:c.671-14_671-13del	NP_009231.2:n.671-14_671-13del
NR_027676.1:n.807-14_807-13del
NM_007294.4:c.671-14_671-13del MANE Select	NP_009225.1:n.671-14_671-13del
NM_007297.4:c.530-14_530-13del	NP_009228.2:n.530-14_530-13del
NM_007299.4:c.671-14_671-13del	NP_009230.2:n.671-14_671-13del
NM_007300.4:c.671-14_671-13del	NP_009231.2:n.671-14_671-13del
NR_027676.2:n.848-14_848-13del