Canonical Allele Identifier: CA10602596

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267616
• ClinVar RCV Id: RCV000258229
• MyVariant Identifiers: chr17:g.41245767_41246903del (hg19) ; chr17:g.43093750_43094886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093751_43094887del , CM000679.2:g.43093751_43094887del	GRCh38
NC_000017.10:g.41245768_41246904del , CM000679.1:g.41245768_41246904del	GRCh37
NC_000017.9:g.38499294_38500430del	NCBI36
NG_005905.2:g.123098_124234del , LRG_292:g.123098_124234del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.735-26_1845del
ENST00000461574.2:c.671-26_1781del
ENST00000470026.6:c.671-26_1781del
ENST00000473961.6:c.545-26_1655del
ENST00000476777.6:c.668-26_1778del
ENST00000477152.6:c.593-26_1703del
ENST00000478531.6:c.668-26_784+994del
ENST00000489037.2:c.593-26_1703del
ENST00000493919.6:c.530-26_646+994del
ENST00000494123.6:c.671-26_1781del
ENST00000497488.2:c.-218-26_893del
ENST00000618469.2:c.671-26_1781del
ENST00000634433.2:c.548-26_1658del
ENST00000644379.2:c.671-26_1781del
ENST00000644555.2:c.530-26_646+994del
ENST00000652672.2:c.530-26_1640del
ENST00000484087.6:c.548-26_664+994del
ENST00000700182.1:c.590-26_706+994del
ENST00000357654.9:c.671-26_1781del
ENST00000471181.7:c.671-26_1781del
ENST00000652672.1:c.530-26_1640del
ENST00000352993.7:c.670+960_670+2096del	ENSP00000312236.5:n.670+960_670+2096del
ENST00000354071.7:c.671-26_1781del
ENST00000357654.7:c.671-26_1781del
ENST00000412061.3:c.22-26_1132del
ENST00000461221.5:c.*454-26_*1564del
ENST00000468300.5:c.671-26_787+994del
ENST00000470026.5:c.671-26_1781del
ENST00000471181.6:c.671-26_1781del
ENST00000477152.5:c.593-26_1703del
ENST00000478531.5:c.668-26_784+994del
ENST00000484087.5:c.293-26_409+994del
ENST00000487825.5:c.296-26_412+994del
ENST00000491747.6:c.671-26_787+994del
ENST00000493795.5:c.530-26_1640del
ENST00000493919.5:c.530-26_646+994del
ENST00000586385.5:c.4+30296_5-29799del	ENSP00000465818.1:n.4+30296_5-29799del
ENST00000591534.5:c.-43-20365_-43-19229del	ENSP00000467329.1:n.-43-20365_-43-19229de...
ENST00000591849.5:c.-99+30385_-99+31521del	ENSP00000465347.1:n.-99+30385_-99+31521de...
ENST00000634433.1:c.548-26_1658del
NM_007294.3:c.671-26_1781del , LRG_292t1:c.671-26_1781del
NM_007297.3:c.530-26_1640del
NM_007298.3:c.671-26_787+994del
NM_007299.3:c.671-26_787+994del
NM_007300.3:c.671-26_1781del
NR_027676.1:n.807-26_1917del
NM_007294.4:c.671-26_1781del
NM_007297.4:c.530-26_1640del
NM_007299.4:c.671-26_787+994del
NM_007300.4:c.671-26_1781del
NR_027676.2:n.848-26_1958del