Canonical Allele Identifier: CA349513

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 219494
• ClinVar RCV Id: RCV000205356
• dbSNP Id: rs864622119
• MyVariant Identifiers: chr17:g.41234415_41234416del (hg19) ; chr17:g.43082398_43082399del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082402_43082403del , CM000679.2:g.43082402_43082403del	GRCh38
NC_000017.10:g.41234419_41234420del , CM000679.1:g.41234419_41234420del	GRCh37
NC_000017.9:g.38487945_38487946del	NCBI36
NG_005905.2:g.135585_135586del , LRG_292:g.135585_135586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4357+5_4357+6del	ENSP00000417241.2:n.4357+5_4357+6del
ENST00000470026.6:c.4357+5_4357+6del	ENSP00000419274.2:n.4357+5_4357+6del
ENST00000473961.6:c.4231+5_4231+6del	ENSP00000420201.2:n.4231+5_4231+6del
ENST00000476777.6:c.4351+5_4351+6del	ENSP00000417554.2:n.4351+5_4351+6del
ENST00000477152.6:c.4279+5_4279+6del	ENSP00000419988.2:n.4279+5_4279+6del
ENST00000478531.6:c.1045+5_1045+6del	ENSP00000420412.2:n.1045+5_1045+6del
ENST00000489037.2:c.4279+5_4279+6del	ENSP00000420781.2:n.4279+5_4279+6del
ENST00000493919.6:c.907+5_907+6del	ENSP00000418819.2:n.907+5_907+6del
ENST00000494123.6:c.4357+5_4357+6del	ENSP00000419103.2:n.4357+5_4357+6del
ENST00000497488.2:c.3469+5_3469+6del	ENSP00000418986.2:n.3469+5_3469+6del
ENST00000618469.2:c.4357+5_4357+6del	ENSP00000478114.2:n.4357+5_4357+6del
ENST00000634433.2:c.4234+5_4234+6del	ENSP00000489431.2:n.4234+5_4234+6del
ENST00000644379.2:c.4357+5_4357+6del	ENSP00000496570.2:n.4357+5_4357+6del
ENST00000644555.2:c.907+5_907+6del	ENSP00000494614.2:n.907+5_907+6del
ENST00000652672.2:c.4216+5_4216+6del	ENSP00000498906.2:n.4216+5_4216+6del
ENST00000484087.6:c.922+5_922+6del	ENSP00000419481.2:n.922+5_922+6del
ENST00000700182.1:c.967+5_967+6del	ENSP00000514849.1:n.967+5_967+6del
ENST00000357654.9:c.4357+5_4357+6del MANE Select	ENSP00000350283.3:n.4357+5_4357+6del
ENST00000471181.7:c.4357+5_4357+6del	ENSP00000418960.2:n.4357+5_4357+6del
ENST00000644379.1:c.678+5_678+6del
ENST00000352993.7:c.931+5_931+6del	ENSP00000312236.5:n.931+5_931+6del
ENST00000357654.7:c.4357+5_4357+6del	ENSP00000350283.3:n.4357+5_4357+6del
ENST00000461221.5:c.*4140+5_*4140+6del	ENSP00000418548.1:n.*4140+5_*4140+6del
ENST00000461574.1:c.651+5_651+6del
ENST00000468300.5:c.1048+5_1048+6del	ENSP00000417148.1:n.1048+5_1048+6del
ENST00000471181.6:c.4357+5_4357+6del	ENSP00000418960.2:n.4357+5_4357+6del
ENST00000478531.5:c.1045+5_1045+6del	ENSP00000420412.1:n.1045+5_1045+6del
ENST00000484087.5:c.670+5_670+6del	ENSP00000419481.1:n.670+5_670+6del
ENST00000487825.5:c.673+5_673+6del	ENSP00000418212.1:n.673+5_673+6del
ENST00000491747.6:c.1048+5_1048+6del	ENSP00000420705.2:n.1048+5_1048+6del
ENST00000493795.5:c.4216+5_4216+6del	ENSP00000418775.1:n.4216+5_4216+6del
ENST00000493919.5:c.907+5_907+6del	ENSP00000418819.1:n.907+5_907+6del
ENST00000586385.5:c.5-18448_5-18447del	ENSP00000465818.1:n.5-18448_5-18447del
ENST00000591534.5:c.-43-7878_-43-7877del	ENSP00000467329.1:n.-43-7878_-43-7877del
ENST00000591849.5:c.-98-32209_-98-32208del	ENSP00000465347.1:n.-98-32209_-98-32208del
ENST00000621897.1:n.251+5_251+6del
NM_007294.3:c.4357+5_4357+6del , LRG_292t1:c.4357+5_4357+6del	NP_009225.1:n.4357+5_4357+6del
NM_007297.3:c.4216+5_4216+6del	NP_009228.2:n.4216+5_4216+6del
NM_007298.3:c.1048+5_1048+6del	NP_009229.2:n.1048+5_1048+6del
NM_007299.3:c.1048+5_1048+6del	NP_009230.2:n.1048+5_1048+6del
NM_007300.3:c.4357+5_4357+6del	NP_009231.2:n.4357+5_4357+6del
NR_027676.1:n.4493+5_4493+6del
NM_007294.4:c.4357+5_4357+6del MANE Select	NP_009225.1:n.4357+5_4357+6del
NM_007297.4:c.4216+5_4216+6del	NP_009228.2:n.4216+5_4216+6del
NM_007299.4:c.1048+5_1048+6del	NP_009230.2:n.1048+5_1048+6del
NM_007300.4:c.4357+5_4357+6del	NP_009231.2:n.4357+5_4357+6del
NR_027676.2:n.4534+5_4534+6del