Canonical Allele Identifier: CA2499224607

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1050116
• ClinVar RCV Id: RCV001357042
• dbSNP Id: rs2154548237

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104073_43104116del , CM000679.2:g.43104073_43104116del	GRCh38
NC_000017.10:g.41256090_41256133del , CM000679.1:g.41256090_41256133del	GRCh37
NC_000017.9:g.38509616_38509659del	NCBI36
NG_005905.2:g.113868_113911del , LRG_292:g.113868_113911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.505+6_505+49del
ENST00000461574.2:c.441+6_441+49del	ENSP00000417241.2:n.441+6_441+49del
ENST00000470026.6:c.441+6_441+49del	ENSP00000419274.2:n.441+6_441+49del
ENST00000473961.6:c.441+6_441+49del	ENSP00000420201.2:n.441+6_441+49del
ENST00000476777.6:c.441+6_441+49del	ENSP00000417554.2:n.441+6_441+49del
ENST00000477152.6:c.363+6_363+49del	ENSP00000419988.2:n.363+6_363+49del
ENST00000478531.6:c.441+6_441+49del	ENSP00000420412.2:n.441+6_441+49del
ENST00000489037.2:c.363+6_363+49del	ENSP00000420781.2:n.363+6_363+49del
ENST00000493919.6:c.300+6_300+49del	ENSP00000418819.2:n.300+6_300+49del
ENST00000494123.6:c.441+6_441+49del	ENSP00000419103.2:n.441+6_441+49del
ENST00000497488.2:c.-218-9256_-218-9213del	ENSP00000418986.2:n.-218-9256_-218-9213del
ENST00000618469.2:c.441+6_441+49del	ENSP00000478114.2:n.441+6_441+49del
ENST00000634433.2:c.441+6_441+49del	ENSP00000489431.2:n.441+6_441+49del
ENST00000644379.2:c.441+6_441+49del	ENSP00000496570.2:n.441+6_441+49del
ENST00000644555.2:c.300+6_300+49del	ENSP00000494614.2:n.300+6_300+49del
ENST00000652672.2:c.300+6_300+49del	ENSP00000498906.2:n.300+6_300+49del
ENST00000484087.6:c.441+6_441+49del	ENSP00000419481.2:n.441+6_441+49del
ENST00000700182.1:c.363+6_363+49del	ENSP00000514849.1:n.363+6_363+49del
ENST00000700183.1:c.*355+6_*355+49del	ENSP00000514850.1:n.*355+6_*355+49del
ENST00000700184.1:n.684+6_684+49del
ENST00000357654.9:c.441+6_441+49del MANE Select	ENSP00000350283.3:n.441+6_441+49del
ENST00000471181.7:c.441+6_441+49del	ENSP00000418960.2:n.441+6_441+49del
ENST00000642945.1:c.*315+6_*315+49del	ENSP00000495897.1:n.*315+6_*315+49del
ENST00000652672.1:c.300+6_300+49del	ENSP00000498906.1:n.300+6_300+49del
ENST00000352993.7:c.441+6_441+49del	ENSP00000312236.5:n.441+6_441+49del
ENST00000354071.7:c.441+6_441+49del	ENSP00000326002.7:n.441+6_441+49del
ENST00000357654.7:c.441+6_441+49del	ENSP00000350283.3:n.441+6_441+49del
ENST00000461221.5:c.*227+6_*227+49del	ENSP00000418548.1:n.*227+6_*227+49del
ENST00000461798.5:c.*227+6_*227+49del	ENSP00000417988.1:n.*227+6_*227+49del
ENST00000468300.5:c.441+6_441+49del	ENSP00000417148.1:n.441+6_441+49del
ENST00000470026.5:c.441+6_441+49del	ENSP00000419274.1:n.441+6_441+49del
ENST00000471181.6:c.441+6_441+49del	ENSP00000418960.2:n.441+6_441+49del
ENST00000473961.5:c.164+6_164+49del
ENST00000476777.5:c.441+6_441+49del	ENSP00000417554.1:n.441+6_441+49del
ENST00000477152.5:c.363+6_363+49del	ENSP00000419988.1:n.363+6_363+49del
ENST00000478531.5:c.441+6_441+49del	ENSP00000420412.1:n.441+6_441+49del
ENST00000484087.5:c.189+6_189+49del	ENSP00000419481.1:n.189+6_189+49del
ENST00000487825.5:c.189+6_189+49del	ENSP00000418212.1:n.189+6_189+49del
ENST00000491747.6:c.441+6_441+49del	ENSP00000420705.2:n.441+6_441+49del
ENST00000492859.5:c.*377+6_*377+49del	ENSP00000420253.1:n.*377+6_*377+49del
ENST00000493795.5:c.300+6_300+49del	ENSP00000418775.1:n.300+6_300+49del
ENST00000493919.5:c.300+6_300+49del	ENSP00000418819.1:n.300+6_300+49del
ENST00000494123.5:c.441+6_441+49del	ENSP00000419103.1:n.441+6_441+49del
ENST00000497488.1:c.-218-9256_-218-9213del	ENSP00000418986.1:n.-218-9256_-218-9213del
ENST00000586385.5:c.4+21066_4+21109del	ENSP00000465818.1:n.4+21066_4+21109del
ENST00000591534.5:c.-44+21155_-44+21198del	ENSP00000467329.1:n.-44+21155_-44+21198del
ENST00000591849.5:c.-99+21155_-99+21198del	ENSP00000465347.1:n.-99+21155_-99+21198del
ENST00000634433.1:c.441+6_441+49del	ENSP00000489431.1:n.441+6_441+49del
NM_007294.3:c.441+6_441+49del , LRG_292t1:c.441+6_441+49del	NP_009225.1:n.441+6_441+49del
NM_007297.3:c.300+6_300+49del	NP_009228.2:n.300+6_300+49del
NM_007298.3:c.441+6_441+49del	NP_009229.2:n.441+6_441+49del
NM_007299.3:c.441+6_441+49del	NP_009230.2:n.441+6_441+49del
NM_007300.3:c.441+6_441+49del	NP_009231.2:n.441+6_441+49del
NR_027676.1:n.580+6_580+49del
NM_007294.4:c.441+6_441+49del MANE Select	NP_009225.1:n.441+6_441+49del
NM_007297.4:c.300+6_300+49del	NP_009228.2:n.300+6_300+49del
NM_007299.4:c.441+6_441+49del	NP_009230.2:n.441+6_441+49del
NM_007300.4:c.441+6_441+49del	NP_009231.2:n.441+6_441+49del
NR_027676.2:n.621+6_621+49del