Canonical Allele Identifier: CA913203495
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063366_43063931del , CM000679.2:g.43063366_43063931del GRCh38
NC_000017.10:g.41215383_41215948del , CM000679.1:g.41215383_41215948del GRCh37
NC_000017.9:g.38468909_38469474del NCBI36
NG_005905.2:g.154054_154619del , LRG_292:g.154054_154619del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5093_5158del
ENST00000470026.6:c.5096_5161del
ENST00000473961.6:c.4970_5035del
ENST00000476777.6:c.5090_5155del
ENST00000477152.6:c.5018_5083del
ENST00000478531.6:c.1784_1849del
ENST00000489037.2:c.5018_5083del
ENST00000493919.6:c.1646_1711del
ENST00000494123.6:c.5096_5161del
ENST00000497488.2:c.4208_4273del
ENST00000618469.2:c.5096_5161del
ENST00000634433.2:c.4973_5038del
ENST00000644379.2:c.5162_5227del
ENST00000644555.2:c.1646_1711del
ENST00000652672.2:c.4955_5020del
ENST00000484087.6:c.1658_1723del
ENST00000357654.9:c.5096_5161del
ENST00000471181.7:c.5159_5224del
ENST00000644379.1:c.1483_1548del
ENST00000352993.7:c.1670_1735del
ENST00000357654.7:c.5096_5161del
ENST00000461221.5:c.*4879_*4944del
ENST00000468300.5:c.1784_1849del
ENST00000471181.6:c.5159_5224del
ENST00000478531.5:c.1784_1849del
ENST00000484087.5:c.1409_1474del
ENST00000491747.6:c.1784_1849del
ENST00000493795.5:c.4955_5020del
ENST00000493919.5:c.1646_1711del
ENST00000586385.5:c.26_91del
ENST00000591534.5:c.569_634del
ENST00000591849.5:c.-98-13740_-98-13175del ENSP00000465347.1:n.-98-13740_-98-13175de...
NM_007294.3:c.5096_5161del , LRG_292t1:c.5096_5161del
NM_007297.3:c.4955_5020del
NM_007298.3:c.1784_1849del
NM_007299.3:c.1784_1849del
NM_007300.3:c.5159_5224del
NR_027676.1:n.5232_5297del
NM_007294.4:c.5096_5161del
NM_007297.4:c.4955_5020del
NM_007299.4:c.1784_1849del
NM_007300.4:c.5159_5224del
NR_027676.2:n.5273_5338del