Canonical Allele Identifier: CA16043347

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 373840
• ClinVar RCV Id: RCV000414677
• MyVariant Identifiers: chr17:g.41213809_41218634del (hg19) ; chr17:g.43061792_43066617del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43061818_43066643del , CM000679.2:g.43061818_43066643del	GRCh38
NC_000017.10:g.41213835_41218660del , CM000679.1:g.41213835_41218660del	GRCh37
NC_000017.9:g.38467361_38472186del	NCBI36
NG_005905.2:g.151367_156192del , LRG_292:g.151367_156192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5071+991_5190+1541del
ENST00000470026.6:c.5074+991_5193+1541del
ENST00000473961.6:c.4948+991_5067+1541del
ENST00000476777.6:c.5068+991_5187+1541del
ENST00000477152.6:c.4996+991_5115+1541del
ENST00000478531.6:c.1762+991_1881+1541del
ENST00000489037.2:c.4996+991_5115+1541del
ENST00000493919.6:c.1624+991_1743+1541del
ENST00000494123.6:c.5074+991_5193+1541del
ENST00000497488.2:c.4186+991_4305+1541del
ENST00000618469.2:c.5074+991_5193+1541del
ENST00000634433.2:c.4951+991_5070+1541del
ENST00000644379.2:c.5140+991_5259+1541del
ENST00000644555.2:c.1624+991_1743+1541del
ENST00000652672.2:c.4933+991_5052+1541del
ENST00000484087.6:c.1636+991_1755+1541del
ENST00000357654.9:c.5074+991_5193+1541del
ENST00000471181.7:c.5137+991_5256+1541del
ENST00000644379.1:c.1461+991_1580+1541del
ENST00000352993.7:c.1648+991_1767+1541del
ENST00000357654.7:c.5074+991_5193+1541del
ENST00000461221.5:c.*4857+991_*4976+1541del
ENST00000468300.5:c.1762+991_1881+1541del
ENST00000471181.6:c.5137+991_5256+1541del
ENST00000491747.6:c.1762+991_1881+1541del
ENST00000493795.5:c.4933+991_5052+1541del
ENST00000586385.5:c.5-2666_123+1541del
ENST00000591534.5:c.547+991_666+1541del
ENST00000591849.5:c.-98-16427_-98-11602del	ENSP00000465347.1:n.-98-16427_-98-11602de...
NM_007294.3:c.5074+991_5193+1541del , LRG_292t1:c.5074+991_5193+1541del
NM_007297.3:c.4933+991_5052+1541del
NM_007298.3:c.1762+991_1881+1541del
NM_007299.3:c.1762+991_1881+1541del
NM_007300.3:c.5137+991_5256+1541del
NR_027676.1:n.5210+991_5329+1541del
NM_007294.4:c.5074+991_5193+1541del
NM_007297.4:c.4933+991_5052+1541del
NM_007299.4:c.1762+991_1881+1541del
NM_007300.4:c.5137+991_5256+1541del
NR_027676.2:n.5251+991_5370+1541del