Canonical Allele Identifier: CA2499224350

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1172431
• ClinVar RCV Id: RCV001526296 ; RCV002071889
• dbSNP Id: rs2152815630

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047716_43047717dup , CM000679.2:g.43047716_43047717dup	GRCh38
NC_000017.10:g.41199733_41199734dup , CM000679.1:g.41199733_41199734dup	GRCh37
NC_000017.9:g.38453259_38453260dup	NCBI36
NG_005905.2:g.170267_170268dup , LRG_292:g.170267_170268dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5404-14_5404-13dup	ENSP00000417241.2:n.5404-14_5404-13dup
ENST00000470026.6:c.5407-14_5407-13dup	ENSP00000419274.2:n.5407-14_5407-13dup
ENST00000473961.6:c.5281-14_5281-13dup	ENSP00000420201.2:n.5281-14_5281-13dup
ENST00000476777.6:c.5401-14_5401-13dup	ENSP00000417554.2:n.5401-14_5401-13dup
ENST00000477152.6:c.5329-14_5329-13dup	ENSP00000419988.2:n.5329-14_5329-13dup
ENST00000478531.6:c.2095-14_2095-13dup	ENSP00000420412.2:n.2095-14_2095-13dup
ENST00000489037.2:c.5329-14_5329-13dup	ENSP00000420781.2:n.5329-14_5329-13dup
ENST00000493919.6:c.1957-14_1957-13dup	ENSP00000418819.2:n.1957-14_1957-13dup
ENST00000494123.6:c.5407-14_5407-13dup	ENSP00000419103.2:n.5407-14_5407-13dup
ENST00000497488.2:c.4519-14_4519-13dup	ENSP00000418986.2:n.4519-14_4519-13dup
ENST00000618469.2:c.5407-14_5407-13dup	ENSP00000478114.2:n.5407-14_5407-13dup
ENST00000634433.2:c.5284-14_5284-13dup	ENSP00000489431.2:n.5284-14_5284-13dup
ENST00000644379.2:c.5473-14_5473-13dup	ENSP00000496570.2:n.5473-14_5473-13dup
ENST00000644555.2:c.1957-14_1957-13dup	ENSP00000494614.2:n.1957-14_1957-13dup
ENST00000652672.2:c.5266-14_5266-13dup	ENSP00000498906.2:n.5266-14_5266-13dup
ENST00000484087.6:c.1969-14_1969-13dup	ENSP00000419481.2:n.1969-14_1969-13dup
ENST00000700081.1:n.1290-14_1290-13dup
ENST00000700082.1:n.757_758dup
ENST00000357654.9:c.5407-14_5407-13dup MANE Select	ENSP00000350283.3:n.5407-14_5407-13dup
ENST00000471181.7:c.5470-14_5470-13dup	ENSP00000418960.2:n.5470-14_5470-13dup
ENST00000644379.1:c.1794-14_1794-13dup
ENST00000352993.7:c.1981-14_1981-13dup	ENSP00000312236.5:n.1981-14_1981-13dup
ENST00000357654.7:c.5407-14_5407-13dup	ENSP00000350283.3:n.5407-14_5407-13dup
ENST00000461221.5:c.*5190-14_*5190-13dup	ENSP00000418548.1:n.*5190-14_*5190-13dup
ENST00000468300.5:c.2021-14_2021-13dup	ENSP00000417148.1:n.2021-14_2021-13dup
ENST00000471181.6:c.5470-14_5470-13dup	ENSP00000418960.2:n.5470-14_5470-13dup
ENST00000491747.6:c.2095-14_2095-13dup	ENSP00000420705.2:n.2095-14_2095-13dup
ENST00000493795.5:c.5266-14_5266-13dup	ENSP00000418775.1:n.5266-14_5266-13dup
ENST00000586385.5:c.337-14_337-13dup	ENSP00000465818.1:n.337-14_337-13dup
ENST00000591534.5:c.880-14_880-13dup	ENSP00000467329.1:n.880-14_880-13dup
ENST00000591849.5:c.106-14_106-13dup	ENSP00000465347.1:n.106-14_106-13dup
NM_007294.3:c.5407-14_5407-13dup , LRG_292t1:c.5407-14_5407-13dup	NP_009225.1:n.5407-14_5407-13dup
NM_007297.3:c.5266-14_5266-13dup	NP_009228.2:n.5266-14_5266-13dup
NM_007298.3:c.2095-14_2095-13dup	NP_009229.2:n.2095-14_2095-13dup
NM_007299.3:c.2021-14_2021-13dup	NP_009230.2:n.2021-14_2021-13dup
NM_007300.3:c.5470-14_5470-13dup	NP_009231.2:n.5470-14_5470-13dup
NR_027676.1:n.5543-14_5543-13dup
NM_007294.4:c.5407-14_5407-13dup MANE Select	NP_009225.1:n.5407-14_5407-13dup
NM_007297.4:c.5266-14_5266-13dup	NP_009228.2:n.5266-14_5266-13dup
NM_007299.4:c.2021-14_2021-13dup	NP_009230.2:n.2021-14_2021-13dup
NM_007300.4:c.5470-14_5470-13dup	NP_009231.2:n.5470-14_5470-13dup
NR_027676.2:n.5584-14_5584-13dup