Canonical Allele Identifier: CA983870553

Gene: BRCA1

Linked Data

• dbSNP Id: rs2051369053
• gnomAD v3: 17-43054276-A-C
• gnomAD v4: 17-43054276-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43054276A>C , CM000679.2:g.43054276A>C	GRCh38
NC_000017.10:g.41206293A>C , CM000679.1:g.41206293A>C	GRCh37
NC_000017.9:g.38459819A>C	NCBI36
NG_005905.2:g.163708T>G , LRG_292:g.163708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5274+2776T>G	ENSP00000417241.2:n.5274+2776T>G
ENST00000470026.6:c.5277+2776T>G	ENSP00000419274.2:n.5277+2776T>G
ENST00000473961.6:c.5151+2776T>G	ENSP00000420201.2:n.5151+2776T>G
ENST00000476777.6:c.5271+2776T>G	ENSP00000417554.2:n.5271+2776T>G
ENST00000477152.6:c.5199+2776T>G	ENSP00000419988.2:n.5199+2776T>G
ENST00000478531.6:c.1965+2776T>G	ENSP00000420412.2:n.1965+2776T>G
ENST00000489037.2:c.5199+2776T>G	ENSP00000420781.2:n.5199+2776T>G
ENST00000493919.6:c.1827+2776T>G	ENSP00000418819.2:n.1827+2776T>G
ENST00000494123.6:c.5277+2776T>G	ENSP00000419103.2:n.5277+2776T>G
ENST00000497488.2:c.4389+2776T>G	ENSP00000418986.2:n.4389+2776T>G
ENST00000618469.2:c.5277+2776T>G	ENSP00000478114.2:n.5277+2776T>G
ENST00000634433.2:c.5154+2776T>G	ENSP00000489431.2:n.5154+2776T>G
ENST00000644379.2:c.5343+2776T>G	ENSP00000496570.2:n.5343+2776T>G
ENST00000644555.2:c.1827+2776T>G	ENSP00000494614.2:n.1827+2776T>G
ENST00000652672.2:c.5136+2776T>G	ENSP00000498906.2:n.5136+2776T>G
ENST00000484087.6:c.1839+2776T>G	ENSP00000419481.2:n.1839+2776T>G
ENST00000357654.9:c.5277+2776T>G MANE Select	ENSP00000350283.3:n.5277+2776T>G
ENST00000471181.7:c.5340+2776T>G	ENSP00000418960.2:n.5340+2776T>G
ENST00000644379.1:c.1664+2776T>G
ENST00000352993.7:c.1851+2776T>G	ENSP00000312236.5:n.1851+2776T>G
ENST00000357654.7:c.5277+2776T>G	ENSP00000350283.3:n.5277+2776T>G
ENST00000461221.5:c.*5060+2776T>G	ENSP00000418548.1:n.*5060+2776T>G
ENST00000468300.5:c.1965+2776T>G	ENSP00000417148.1:n.1965+2776T>G
ENST00000471181.6:c.5340+2776T>G	ENSP00000418960.2:n.5340+2776T>G
ENST00000491747.6:c.1965+2776T>G	ENSP00000420705.2:n.1965+2776T>G
ENST00000493795.5:c.5136+2776T>G	ENSP00000418775.1:n.5136+2776T>G
ENST00000586385.5:c.207+2776T>G	ENSP00000465818.1:n.207+2776T>G
ENST00000591534.5:c.750+2776T>G	ENSP00000467329.1:n.750+2776T>G
ENST00000591849.5:c.-98-4086T>G	ENSP00000465347.1:n.-98-4086T>G
NM_007294.3:c.5277+2776T>G , LRG_292t1:c.5277+2776T>G	NP_009225.1:n.5277+2776T>G
NM_007297.3:c.5136+2776T>G	NP_009228.2:n.5136+2776T>G
NM_007298.3:c.1965+2776T>G	NP_009229.2:n.1965+2776T>G
NM_007299.3:c.1965+2776T>G	NP_009230.2:n.1965+2776T>G
NM_007300.3:c.5340+2776T>G	NP_009231.2:n.5340+2776T>G
NR_027676.1:n.5413+2776T>G
NM_007294.4:c.5277+2776T>G MANE Select	NP_009225.1:n.5277+2776T>G
NM_007297.4:c.5136+2776T>G	NP_009228.2:n.5136+2776T>G
NM_007299.4:c.1965+2776T>G	NP_009230.2:n.1965+2776T>G
NM_007300.4:c.5340+2776T>G	NP_009231.2:n.5340+2776T>G
NR_027676.2:n.5454+2776T>G