Canonical Allele Identifier: CA2843744564
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43061133_43063725del , CM000679.2:g.43061133_43063725del GRCh38
NC_000017.10:g.41213150_41215742del , CM000679.1:g.41213150_41215742del GRCh37
NC_000017.9:g.38466676_38469268del NCBI36
NG_005905.2:g.154259_156851del , LRG_292:g.154259_156851del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5149+149_5190+2200del
ENST00000470026.6:c.5152+149_5193+2200del
ENST00000473961.6:c.5026+149_5067+2200del
ENST00000476777.6:c.5146+149_5187+2200del
ENST00000477152.6:c.5074+149_5115+2200del
ENST00000478531.6:c.1840+149_1881+2200del
ENST00000489037.2:c.5074+149_5115+2200del
ENST00000493919.6:c.1702+149_1743+2200del
ENST00000494123.6:c.5152+149_5193+2200del
ENST00000497488.2:c.4264+149_4305+2200del
ENST00000618469.2:c.5152+149_5193+2200del
ENST00000634433.2:c.5029+149_5070+2200del
ENST00000644379.2:c.5218+149_5259+2200del
ENST00000644555.2:c.1702+149_1743+2200del
ENST00000652672.2:c.5011+149_5052+2200del
ENST00000484087.6:c.1714+149_1755+2200del
ENST00000357654.9:c.5152+149_5193+2200del
ENST00000471181.7:c.5215+149_5256+2200del
ENST00000644379.1:c.1539+149_1580+2200del
ENST00000352993.7:c.1726+149_1767+2200del
ENST00000357654.7:c.5152+149_5193+2200del
ENST00000461221.5:c.*4935+149_*4976+2200del
ENST00000468300.5:c.1840+149_1881+2200del
ENST00000471181.6:c.5215+149_5256+2200del
ENST00000491747.6:c.1840+149_1881+2200del
ENST00000493795.5:c.5011+149_5052+2200del
ENST00000586385.5:c.82+149_123+2200del
ENST00000591534.5:c.625+149_666+2200del
ENST00000591849.5:c.-98-13535_-98-10943del ENSP00000465347.1:n.-98-13535_-98-10943del
NM_007294.3:c.5152+149_5193+2200del , LRG_292t1:c.5152+149_5193+2200del
NM_007297.3:c.5011+149_5052+2200del
NM_007298.3:c.1840+149_1881+2200del
NM_007299.3:c.1840+149_1881+2200del
NM_007300.3:c.5215+149_5256+2200del
NR_027676.1:n.5288+149_5329+2200del
NM_007294.4:c.5152+149_5193+2200del
NM_007297.4:c.5011+149_5052+2200del
NM_007299.4:c.1840+149_1881+2200del
NM_007300.4:c.5215+149_5256+2200del
NR_027676.2:n.5329+149_5370+2200del