Canonical Allele Identifier: CA002572

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55078
• ClinVar RCV Id: RCV001191519 ; RCV003529966
• dbSNP Id: rs397509129
• MyVariant Identifiers: chr17:g.41243514_41243516del (hg19) ; chr17:g.43091497_43091499del (hg38)
• PubMed: PMID:17990525

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091502_43091504del , CM000679.2:g.43091502_43091504del	GRCh38
NC_000017.10:g.41243519_41243521del , CM000679.1:g.41243519_41243521del	GRCh37
NC_000017.9:g.38497045_38497047del	NCBI36
NG_005905.2:g.126485_126487del , LRG_292:g.126485_126487del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4096_4098del
ENST00000461574.2:c.4032_4034del	ENSP00000417241.2:p.Asp1344del
ENST00000470026.6:c.4032_4034del	ENSP00000419274.2:p.Asp1344del
ENST00000473961.6:c.3906_3908del	ENSP00000420201.2:p.Asp1302del
ENST00000476777.6:c.4029_4031del	ENSP00000417554.2:p.Asp1343del
ENST00000477152.6:c.3954_3956del	ENSP00000419988.2:p.Asp1318del
ENST00000478531.6:c.785-467_785-465del	ENSP00000420412.2:n.785-467_785-465del
ENST00000489037.2:c.3954_3956del	ENSP00000420781.2:p.Asp1318del
ENST00000493919.6:c.647-467_647-465del	ENSP00000418819.2:n.647-467_647-465del
ENST00000494123.6:c.4032_4034del	ENSP00000419103.2:p.Asp1344del
ENST00000497488.2:c.3144_3146del	ENSP00000418986.2:p.Asp1048del
ENST00000618469.2:c.4032_4034del	ENSP00000478114.2:p.Asp1344del
ENST00000634433.2:c.3909_3911del	ENSP00000489431.2:p.Asp1303del
ENST00000644379.2:c.4032_4034del	ENSP00000496570.2:p.Asp1344del
ENST00000644555.2:c.647-467_647-465del	ENSP00000494614.2:n.647-467_647-465del
ENST00000652672.2:c.3891_3893del	ENSP00000498906.2:p.Asp1297del
ENST00000484087.6:c.665-467_665-465del	ENSP00000419481.2:n.665-467_665-465del
ENST00000700182.1:c.707-467_707-465del	ENSP00000514849.1:n.707-467_707-465del
ENST00000357654.9:c.4032_4034del MANE Select	ENSP00000350283.3:p.Asp1344del
ENST00000471181.7:c.4032_4034del	ENSP00000418960.2:p.Asp1344del
ENST00000644379.1:c.353_355del
ENST00000352993.7:c.671-467_671-465del	ENSP00000312236.5:n.671-467_671-465del
ENST00000354071.7:c.4032_4034del	ENSP00000326002.7:p.Asp1344del
ENST00000357654.7:c.4032_4034del	ENSP00000350283.3:p.Asp1344del
ENST00000461221.5:c.*3815_*3817del	ENSP00000418548.1:n.*3815_*3817del
ENST00000461574.1:c.326_328del
ENST00000468300.5:c.788-467_788-465del	ENSP00000417148.1:n.788-467_788-465del
ENST00000471181.6:c.4032_4034del	ENSP00000418960.2:p.Asp1344del
ENST00000478531.5:c.785-467_785-465del	ENSP00000420412.1:n.785-467_785-465del
ENST00000484087.5:c.410-467_410-465del	ENSP00000419481.1:n.410-467_410-465del
ENST00000487825.5:c.413-467_413-465del	ENSP00000418212.1:n.413-467_413-465del
ENST00000491747.6:c.788-467_788-465del	ENSP00000420705.2:n.788-467_788-465del
ENST00000493795.5:c.3891_3893del	ENSP00000418775.1:p.Asp1297del
ENST00000493919.5:c.647-467_647-465del	ENSP00000418819.1:n.647-467_647-465del
ENST00000586385.5:c.5-27548_5-27546del	ENSP00000465818.1:n.5-27548_5-27546del
ENST00000591534.5:c.-43-16978_-43-16976del	ENSP00000467329.1:n.-43-16978_-43-16976de...
ENST00000591849.5:c.-99+33772_-99+33774del	ENSP00000465347.1:n.-99+33772_-99+33774de...
NM_007294.3:c.4032_4034del , LRG_292t1:c.4032_4034del	NP_009225.1:p.Asp1344del
NM_007297.3:c.3891_3893del	NP_009228.2:p.Asp1297del
NM_007298.3:c.788-467_788-465del	NP_009229.2:n.788-467_788-465del
NM_007299.3:c.788-467_788-465del	NP_009230.2:n.788-467_788-465del
NM_007300.3:c.4032_4034del	NP_009231.2:p.Asp1344del
NR_027676.1:n.4168_4170del
NM_007294.4:c.4032_4034del MANE Select	NP_009225.1:p.Asp1344del
NM_007297.4:c.3891_3893del	NP_009228.2:p.Asp1297del
NM_007299.4:c.788-467_788-465del	NP_009230.2:n.788-467_788-465del
NM_007300.4:c.4032_4034del	NP_009231.2:p.Asp1344del
NR_027676.2:n.4209_4211del