Canonical Allele Identifier: CA772202984

Gene: BRCA1

Linked Data

• dbSNP Id: rs1180536178
• gnomAD v3: 17-43095780-AATTAC-A
• gnomAD v4: 17-43095780-AATTAC-A
• MyVariant Identifiers: chr17:g.41247798_41247802del (hg19) ; chr17:g.43095781_43095785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43095782_43095786del , CM000679.2:g.43095782_43095786del	GRCh38
NC_000017.10:g.41247799_41247803del , CM000679.1:g.41247799_41247803del	GRCh37
NC_000017.9:g.38501325_38501329del	NCBI36
NG_005905.2:g.122199_122203del , LRG_292:g.122199_122203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.734+61_734+65del
ENST00000461574.2:c.670+61_670+65del	ENSP00000417241.2:n.670+61_670+65del
ENST00000470026.6:c.670+61_670+65del	ENSP00000419274.2:n.670+61_670+65del
ENST00000473961.6:c.545-925_545-921del	ENSP00000420201.2:n.545-925_545-921del
ENST00000476777.6:c.667+61_667+65del	ENSP00000417554.2:n.667+61_667+65del
ENST00000477152.6:c.592+61_592+65del	ENSP00000419988.2:n.592+61_592+65del
ENST00000478531.6:c.667+61_667+65del	ENSP00000420412.2:n.667+61_667+65del
ENST00000489037.2:c.592+61_592+65del	ENSP00000420781.2:n.592+61_592+65del
ENST00000493919.6:c.529+61_529+65del	ENSP00000418819.2:n.529+61_529+65del
ENST00000494123.6:c.670+61_670+65del	ENSP00000419103.2:n.670+61_670+65del
ENST00000497488.2:c.-218-925_-218-921del	ENSP00000418986.2:n.-218-925_-218-921del
ENST00000618469.2:c.670+61_670+65del	ENSP00000478114.2:n.670+61_670+65del
ENST00000634433.2:c.548-925_548-921del	ENSP00000489431.2:n.548-925_548-921del
ENST00000644379.2:c.670+61_670+65del	ENSP00000496570.2:n.670+61_670+65del
ENST00000644555.2:c.529+61_529+65del	ENSP00000494614.2:n.529+61_529+65del
ENST00000652672.2:c.529+61_529+65del	ENSP00000498906.2:n.529+61_529+65del
ENST00000484087.6:c.548-925_548-921del	ENSP00000419481.2:n.548-925_548-921del
ENST00000700182.1:c.589+61_589+65del	ENSP00000514849.1:n.589+61_589+65del
ENST00000700183.1:c.*678+61_*678+65del	ENSP00000514850.1:n.*678+61_*678+65del
ENST00000357654.9:c.670+61_670+65del MANE Select	ENSP00000350283.3:n.670+61_670+65del
ENST00000471181.7:c.670+61_670+65del	ENSP00000418960.2:n.670+61_670+65del
ENST00000642945.1:c.*544+61_*544+65del	ENSP00000495897.1:n.*544+61_*544+65del
ENST00000652672.1:c.529+61_529+65del	ENSP00000498906.1:n.529+61_529+65del
ENST00000352993.7:c.670+61_670+65del	ENSP00000312236.5:n.670+61_670+65del
ENST00000354071.7:c.670+61_670+65del	ENSP00000326002.7:n.670+61_670+65del
ENST00000357654.7:c.670+61_670+65del	ENSP00000350283.3:n.670+61_670+65del
ENST00000412061.3:c.21+61_21+65del
ENST00000461221.5:c.*453+61_*453+65del	ENSP00000418548.1:n.*453+61_*453+65del
ENST00000468300.5:c.670+61_670+65del	ENSP00000417148.1:n.670+61_670+65del
ENST00000470026.5:c.670+61_670+65del	ENSP00000419274.1:n.670+61_670+65del
ENST00000471181.6:c.670+61_670+65del	ENSP00000418960.2:n.670+61_670+65del
ENST00000473961.5:c.268-925_268-921del
ENST00000477152.5:c.592+61_592+65del	ENSP00000419988.1:n.592+61_592+65del
ENST00000478531.5:c.667+61_667+65del	ENSP00000420412.1:n.667+61_667+65del
ENST00000484087.5:c.293-925_293-921del	ENSP00000419481.1:n.293-925_293-921del
ENST00000487825.5:c.296-925_296-921del	ENSP00000418212.1:n.296-925_296-921del
ENST00000491747.6:c.670+61_670+65del	ENSP00000420705.2:n.670+61_670+65del
ENST00000492859.5:c.*606+61_*606+65del	ENSP00000420253.1:n.*606+61_*606+65del
ENST00000493795.5:c.529+61_529+65del	ENSP00000418775.1:n.529+61_529+65del
ENST00000493919.5:c.529+61_529+65del	ENSP00000418819.1:n.529+61_529+65del
ENST00000494123.5:c.670+61_670+65del	ENSP00000419103.1:n.670+61_670+65del
ENST00000497488.1:c.-218-925_-218-921del	ENSP00000418986.1:n.-218-925_-218-921del
ENST00000586385.5:c.4+29397_4+29401del	ENSP00000465818.1:n.4+29397_4+29401del
ENST00000591534.5:c.-43-21264_-43-21260del	ENSP00000467329.1:n.-43-21264_-43-21260del
ENST00000591849.5:c.-99+29486_-99+29490del	ENSP00000465347.1:n.-99+29486_-99+29490del
ENST00000634433.1:c.548-925_548-921del	ENSP00000489431.1:n.548-925_548-921del
NM_007294.3:c.670+61_670+65del , LRG_292t1:c.670+61_670+65del	NP_009225.1:n.670+61_670+65del
NM_007297.3:c.529+61_529+65del	NP_009228.2:n.529+61_529+65del
NM_007298.3:c.670+61_670+65del	NP_009229.2:n.670+61_670+65del
NM_007299.3:c.670+61_670+65del	NP_009230.2:n.670+61_670+65del
NM_007300.3:c.670+61_670+65del	NP_009231.2:n.670+61_670+65del
NR_027676.1:n.806+61_806+65del
NM_007294.4:c.670+61_670+65del MANE Select	NP_009225.1:n.670+61_670+65del
NM_007297.4:c.529+61_529+65del	NP_009228.2:n.529+61_529+65del
NM_007299.4:c.670+61_670+65del	NP_009230.2:n.670+61_670+65del
NM_007300.4:c.670+61_670+65del	NP_009231.2:n.670+61_670+65del
NR_027676.2:n.847+61_847+65del