Canonical Allele Identifier: CA327916

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55132
• ClinVar RCV Id: RCV000258396
• dbSNP Id: rs397509149
• MyVariant Identifiers: chr17:g.41242958_41242961del (hg19) ; chr17:g.43090941_43090944del (hg38)
• PubMed: PMID:21769658

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090942_43090945del , CM000679.2:g.43090942_43090945del	GRCh38
NC_000017.10:g.41242959_41242962del , CM000679.1:g.41242959_41242962del	GRCh37
NC_000017.9:g.38496485_38496488del	NCBI36
NG_005905.2:g.127040_127043del , LRG_292:g.127040_127043del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4185_4185+3del
ENST00000470026.6:c.4185_4185+3del
ENST00000473961.6:c.4059_4059+3del
ENST00000476777.6:c.4182_4182+3del
ENST00000477152.6:c.4107_4107+3del
ENST00000478531.6:c.873_873+3del
ENST00000489037.2:c.4107_4107+3del
ENST00000493919.6:c.735_735+3del
ENST00000494123.6:c.4185_4185+3del
ENST00000497488.2:c.3297_3297+3del
ENST00000618469.2:c.4185_4185+3del
ENST00000634433.2:c.4062_4062+3del
ENST00000644379.2:c.4185_4185+3del
ENST00000644555.2:c.735_735+3del
ENST00000652672.2:c.4044_4044+3del
ENST00000484087.6:c.753_753+3del
ENST00000700182.1:c.795_795+3del
ENST00000357654.9:c.4185_4185+3del
ENST00000471181.7:c.4185_4185+3del
ENST00000644379.1:c.506_506+3del
ENST00000352993.7:c.759_759+3del
ENST00000357654.7:c.4185_4185+3del
ENST00000461221.5:c.*3968_*3968+3del
ENST00000461574.1:c.479_479+3del
ENST00000468300.5:c.876_876+3del
ENST00000471181.6:c.4185_4185+3del
ENST00000478531.5:c.873_873+3del
ENST00000484087.5:c.498_498+3del
ENST00000487825.5:c.501_501+3del
ENST00000491747.6:c.876_876+3del
ENST00000493795.5:c.4044_4044+3del
ENST00000493919.5:c.735_735+3del
ENST00000586385.5:c.5-26993_5-26990del	ENSP00000465818.1:n.5-26993_5-26990del
ENST00000591534.5:c.-43-16423_-43-16420del	ENSP00000467329.1:n.-43-16423_-43-16420del
ENST00000591849.5:c.-99+34327_-99+34330del	ENSP00000465347.1:n.-99+34327_-99+34330del
NM_007294.3:c.4185_4185+3del , LRG_292t1:c.4185_4185+3del
NM_007297.3:c.4044_4044+3del
NM_007298.3:c.876_876+3del
NM_007299.3:c.876_876+3del
NM_007300.3:c.4185_4185+3del
NR_027676.1:n.4321_4321+3del
NM_007294.4:c.4185_4185+3del
NM_007297.4:c.4044_4044+3del
NM_007299.4:c.876_876+3del
NM_007300.4:c.4185_4185+3del
NR_027676.2:n.4362_4362+3del