Canonical Allele Identifier: CA626077856

Gene: BRCA1

Linked Data

• dbSNP Id: rs1202201268
• gnomAD v2: 17-41204895-GTTT-G
• gnomAD v3: 17-43052878-GTTT-G
• gnomAD v4: 17-43052878-GTTT-G
• MyVariant Identifiers: chr17:g.41204896_41204898del (hg19) ; chr17:g.43052879_43052881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43052892_43052894del , CM000679.2:g.43052892_43052894del	GRCh38
NC_000017.10:g.41204909_41204911del , CM000679.1:g.41204909_41204911del	GRCh37
NC_000017.9:g.38458435_38458437del	NCBI36
NG_005905.2:g.165103_165105del , LRG_292:g.165103_165105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5275-1764_5275-1762del	ENSP00000417241.2:n.5275-1764_5275-1762del
ENST00000470026.6:c.5278-1764_5278-1762del	ENSP00000419274.2:n.5278-1764_5278-1762del
ENST00000473961.6:c.5152-1764_5152-1762del	ENSP00000420201.2:n.5152-1764_5152-1762del
ENST00000476777.6:c.5272-1764_5272-1762del	ENSP00000417554.2:n.5272-1764_5272-1762del
ENST00000477152.6:c.5200-1764_5200-1762del	ENSP00000419988.2:n.5200-1764_5200-1762del
ENST00000478531.6:c.1966-1764_1966-1762del	ENSP00000420412.2:n.1966-1764_1966-1762del
ENST00000489037.2:c.5200-1764_5200-1762del	ENSP00000420781.2:n.5200-1764_5200-1762del
ENST00000493919.6:c.1828-1764_1828-1762del	ENSP00000418819.2:n.1828-1764_1828-1762del
ENST00000494123.6:c.5278-1764_5278-1762del	ENSP00000419103.2:n.5278-1764_5278-1762del
ENST00000497488.2:c.4390-1764_4390-1762del	ENSP00000418986.2:n.4390-1764_4390-1762del
ENST00000618469.2:c.5278-1764_5278-1762del	ENSP00000478114.2:n.5278-1764_5278-1762del
ENST00000634433.2:c.5155-1764_5155-1762del	ENSP00000489431.2:n.5155-1764_5155-1762del
ENST00000644379.2:c.5344-1764_5344-1762del	ENSP00000496570.2:n.5344-1764_5344-1762del
ENST00000644555.2:c.1828-1764_1828-1762del	ENSP00000494614.2:n.1828-1764_1828-1762del
ENST00000652672.2:c.5137-1764_5137-1762del	ENSP00000498906.2:n.5137-1764_5137-1762del
ENST00000484087.6:c.1840-1764_1840-1762del	ENSP00000419481.2:n.1840-1764_1840-1762del
ENST00000357654.9:c.5278-1764_5278-1762del MANE Select	ENSP00000350283.3:n.5278-1764_5278-1762del
ENST00000471181.7:c.5341-1764_5341-1762del	ENSP00000418960.2:n.5341-1764_5341-1762del
ENST00000644379.1:c.1665-1764_1665-1762del
ENST00000352993.7:c.1852-1764_1852-1762del	ENSP00000312236.5:n.1852-1764_1852-1762del
ENST00000357654.7:c.5278-1764_5278-1762del	ENSP00000350283.3:n.5278-1764_5278-1762del
ENST00000461221.5:c.*5061-1764_*5061-1762del	ENSP00000418548.1:n.*5061-1764_*5061-1762del
ENST00000468300.5:c.1966-1764_1966-1762del	ENSP00000417148.1:n.1966-1764_1966-1762del
ENST00000471181.6:c.5341-1764_5341-1762del	ENSP00000418960.2:n.5341-1764_5341-1762del
ENST00000491747.6:c.1966-1764_1966-1762del	ENSP00000420705.2:n.1966-1764_1966-1762del
ENST00000493795.5:c.5137-1764_5137-1762del	ENSP00000418775.1:n.5137-1764_5137-1762del
ENST00000586385.5:c.208-1764_208-1762del	ENSP00000465818.1:n.208-1764_208-1762del
ENST00000591534.5:c.751-1764_751-1762del	ENSP00000467329.1:n.751-1764_751-1762del
ENST00000591849.5:c.-98-2691_-98-2689del	ENSP00000465347.1:n.-98-2691_-98-2689del
NM_007294.3:c.5278-1764_5278-1762del , LRG_292t1:c.5278-1764_5278-1762del	NP_009225.1:n.5278-1764_5278-1762del
NM_007297.3:c.5137-1764_5137-1762del	NP_009228.2:n.5137-1764_5137-1762del
NM_007298.3:c.1966-1764_1966-1762del	NP_009229.2:n.1966-1764_1966-1762del
NM_007299.3:c.1966-1764_1966-1762del	NP_009230.2:n.1966-1764_1966-1762del
NM_007300.3:c.5341-1764_5341-1762del	NP_009231.2:n.5341-1764_5341-1762del
NR_027676.1:n.5414-1764_5414-1762del
NM_007294.4:c.5278-1764_5278-1762del MANE Select	NP_009225.1:n.5278-1764_5278-1762del
NM_007297.4:c.5137-1764_5137-1762del	NP_009228.2:n.5137-1764_5137-1762del
NM_007299.4:c.1966-1764_1966-1762del	NP_009230.2:n.1966-1764_1966-1762del
NM_007300.4:c.5341-1764_5341-1762del	NP_009231.2:n.5341-1764_5341-1762del
NR_027676.2:n.5455-1764_5455-1762del