Canonical Allele Identifier: CA626079011

Gene: BRCA1

Linked Data

• dbSNP Id: rs1331628490
• gnomAD v2: 17-41209442-CTT-C
• gnomAD v3: 17-43057425-CTT-C
• gnomAD v4: 17-43057425-CTT-C
• MyVariant Identifiers: chr17:g.41209443_41209444del (hg19) ; chr17:g.43057426_43057427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057428_43057429del , CM000679.2:g.43057428_43057429del	GRCh38
NC_000017.10:g.41209445_41209446del , CM000679.1:g.41209445_41209446del	GRCh37
NC_000017.9:g.38462971_38462972del	NCBI36
NG_005905.2:g.160557_160558del , LRG_292:g.160557_160558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5191-292_5191-291del	ENSP00000417241.2:n.5191-292_5191-291del
ENST00000470026.6:c.5194-292_5194-291del	ENSP00000419274.2:n.5194-292_5194-291del
ENST00000473961.6:c.5068-292_5068-291del	ENSP00000420201.2:n.5068-292_5068-291del
ENST00000476777.6:c.5188-292_5188-291del	ENSP00000417554.2:n.5188-292_5188-291del
ENST00000477152.6:c.5116-292_5116-291del	ENSP00000419988.2:n.5116-292_5116-291del
ENST00000478531.6:c.1882-292_1882-291del	ENSP00000420412.2:n.1882-292_1882-291del
ENST00000489037.2:c.5116-292_5116-291del	ENSP00000420781.2:n.5116-292_5116-291del
ENST00000493919.6:c.1744-292_1744-291del	ENSP00000418819.2:n.1744-292_1744-291del
ENST00000494123.6:c.5194-292_5194-291del	ENSP00000419103.2:n.5194-292_5194-291del
ENST00000497488.2:c.4306-292_4306-291del	ENSP00000418986.2:n.4306-292_4306-291del
ENST00000618469.2:c.5194-292_5194-291del	ENSP00000478114.2:n.5194-292_5194-291del
ENST00000634433.2:c.5071-292_5071-291del	ENSP00000489431.2:n.5071-292_5071-291del
ENST00000644379.2:c.5260-292_5260-291del	ENSP00000496570.2:n.5260-292_5260-291del
ENST00000644555.2:c.1744-292_1744-291del	ENSP00000494614.2:n.1744-292_1744-291del
ENST00000652672.2:c.5053-292_5053-291del	ENSP00000498906.2:n.5053-292_5053-291del
ENST00000484087.6:c.1756-292_1756-291del	ENSP00000419481.2:n.1756-292_1756-291del
ENST00000357654.9:c.5194-292_5194-291del MANE Select	ENSP00000350283.3:n.5194-292_5194-291del
ENST00000471181.7:c.5257-292_5257-291del	ENSP00000418960.2:n.5257-292_5257-291del
ENST00000644379.1:c.1581-292_1581-291del
ENST00000352993.7:c.1768-292_1768-291del	ENSP00000312236.5:n.1768-292_1768-291del
ENST00000357654.7:c.5194-292_5194-291del	ENSP00000350283.3:n.5194-292_5194-291del
ENST00000461221.5:c.*4977-292_*4977-291del	ENSP00000418548.1:n.*4977-292_*4977-291del
ENST00000468300.5:c.1882-292_1882-291del	ENSP00000417148.1:n.1882-292_1882-291del
ENST00000471181.6:c.5257-292_5257-291del	ENSP00000418960.2:n.5257-292_5257-291del
ENST00000491747.6:c.1882-292_1882-291del	ENSP00000420705.2:n.1882-292_1882-291del
ENST00000493795.5:c.5053-292_5053-291del	ENSP00000418775.1:n.5053-292_5053-291del
ENST00000586385.5:c.124-292_124-291del	ENSP00000465818.1:n.124-292_124-291del
ENST00000591534.5:c.667-292_667-291del	ENSP00000467329.1:n.667-292_667-291del
ENST00000591849.5:c.-98-7237_-98-7236del	ENSP00000465347.1:n.-98-7237_-98-7236del
NM_007294.3:c.5194-292_5194-291del , LRG_292t1:c.5194-292_5194-291del	NP_009225.1:n.5194-292_5194-291del
NM_007297.3:c.5053-292_5053-291del	NP_009228.2:n.5053-292_5053-291del
NM_007298.3:c.1882-292_1882-291del	NP_009229.2:n.1882-292_1882-291del
NM_007299.3:c.1882-292_1882-291del	NP_009230.2:n.1882-292_1882-291del
NM_007300.3:c.5257-292_5257-291del	NP_009231.2:n.5257-292_5257-291del
NR_027676.1:n.5330-292_5330-291del
NM_007294.4:c.5194-292_5194-291del MANE Select	NP_009225.1:n.5194-292_5194-291del
NM_007297.4:c.5053-292_5053-291del	NP_009228.2:n.5053-292_5053-291del
NM_007299.4:c.1882-292_1882-291del	NP_009230.2:n.1882-292_1882-291del
NM_007300.4:c.5257-292_5257-291del	NP_009231.2:n.5257-292_5257-291del
NR_027676.2:n.5371-292_5371-291del