Canonical Allele Identifier: CA626076725

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 491136
• ClinVar RCV Id: RCV000582141
• dbSNP Id: rs1292180290
• gnomAD v2: 17-41201521-TGCTG-T
• gnomAD v3: 17-43049504-TGCTG-T
• gnomAD v4: 17-43049504-TGCTG-T
• MyVariant Identifiers: chr17:g.41201522_41201525del (hg19) ; chr17:g.43049505_43049508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049508_43049511del , CM000679.2:g.43049508_43049511del	GRCh38
NC_000017.10:g.41201525_41201528del , CM000679.1:g.41201525_41201528del	GRCh37
NC_000017.9:g.38455051_38455054del	NCBI36
NG_005905.2:g.168476_168479del , LRG_292:g.168476_168479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-314_5330-311del	ENSP00000417241.2:n.5330-314_5330-311del
ENST00000470026.6:c.5333-314_5333-311del	ENSP00000419274.2:n.5333-314_5333-311del
ENST00000473961.6:c.5207-314_5207-311del	ENSP00000420201.2:n.5207-314_5207-311del
ENST00000476777.6:c.5327-314_5327-311del	ENSP00000417554.2:n.5327-314_5327-311del
ENST00000477152.6:c.5255-314_5255-311del	ENSP00000419988.2:n.5255-314_5255-311del
ENST00000478531.6:c.2021-314_2021-311del	ENSP00000420412.2:n.2021-314_2021-311del
ENST00000489037.2:c.5255-314_5255-311del	ENSP00000420781.2:n.5255-314_5255-311del
ENST00000493919.6:c.1883-314_1883-311del	ENSP00000418819.2:n.1883-314_1883-311del
ENST00000494123.6:c.5333-314_5333-311del	ENSP00000419103.2:n.5333-314_5333-311del
ENST00000497488.2:c.4445-314_4445-311del	ENSP00000418986.2:n.4445-314_4445-311del
ENST00000618469.2:c.5333-314_5333-311del	ENSP00000478114.2:n.5333-314_5333-311del
ENST00000634433.2:c.5210-314_5210-311del	ENSP00000489431.2:n.5210-314_5210-311del
ENST00000644379.2:c.5399-314_5399-311del	ENSP00000496570.2:n.5399-314_5399-311del
ENST00000644555.2:c.1883-314_1883-311del	ENSP00000494614.2:n.1883-314_1883-311del
ENST00000652672.2:c.5192-314_5192-311del	ENSP00000498906.2:n.5192-314_5192-311del
ENST00000484087.6:c.1895-314_1895-311del	ENSP00000419481.2:n.1895-314_1895-311del
ENST00000700081.1:n.902_905del
ENST00000357654.9:c.5333-314_5333-311del MANE Select	ENSP00000350283.3:n.5333-314_5333-311del
ENST00000471181.7:c.5396-314_5396-311del	ENSP00000418960.2:n.5396-314_5396-311del
ENST00000644379.1:c.1720-314_1720-311del
ENST00000352993.7:c.1907-314_1907-311del	ENSP00000312236.5:n.1907-314_1907-311del
ENST00000357654.7:c.5333-314_5333-311del	ENSP00000350283.3:n.5333-314_5333-311del
ENST00000461221.5:c.*5116-314_*5116-311del	ENSP00000418548.1:n.*5116-314_*5116-311del
ENST00000468300.5:c.2020+1555_2020+1558del	ENSP00000417148.1:n.2020+1555_2020+1558del
ENST00000471181.6:c.5396-314_5396-311del	ENSP00000418960.2:n.5396-314_5396-311del
ENST00000491747.6:c.2021-314_2021-311del	ENSP00000420705.2:n.2021-314_2021-311del
ENST00000493795.5:c.5192-314_5192-311del	ENSP00000418775.1:n.5192-314_5192-311del
ENST00000586385.5:c.263-314_263-311del	ENSP00000465818.1:n.263-314_263-311del
ENST00000591534.5:c.806-314_806-311del	ENSP00000467329.1:n.806-314_806-311del
ENST00000591849.5:c.32-314_32-311del	ENSP00000465347.1:n.32-314_32-311del
NM_007294.3:c.5333-314_5333-311del , LRG_292t1:c.5333-314_5333-311del	NP_009225.1:n.5333-314_5333-311del
NM_007297.3:c.5192-314_5192-311del	NP_009228.2:n.5192-314_5192-311del
NM_007298.3:c.2021-314_2021-311del	NP_009229.2:n.2021-314_2021-311del
NM_007299.3:c.2020+1555_2020+1558del	NP_009230.2:n.2020+1555_2020+1558del
NM_007300.3:c.5396-314_5396-311del	NP_009231.2:n.5396-314_5396-311del
NR_027676.1:n.5469-314_5469-311del
NM_007294.4:c.5333-314_5333-311del MANE Select	NP_009225.1:n.5333-314_5333-311del
NM_007297.4:c.5192-314_5192-311del	NP_009228.2:n.5192-314_5192-311del
NM_007299.4:c.2020+1555_2020+1558del	NP_009230.2:n.2020+1555_2020+1558del
NM_007300.4:c.5396-314_5396-311del	NP_009231.2:n.5396-314_5396-311del
NR_027676.2:n.5510-314_5510-311del