Canonical Allele Identifier: CA16043351
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373836
ClinVar RCV Id: RCV000413941

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094557_43101117del , CM000679.2:g.43094557_43101117del GRCh38
NC_000017.10:g.41246574_41253134del , CM000679.1:g.41246574_41253134del GRCh37
NC_000017.9:g.38500100_38506660del NCBI36
NG_005905.2:g.116869_123429del , LRG_292:g.116869_123429del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.506-1235_1040del
ENST00000461574.2:c.442-1235_976del
ENST00000470026.6:c.442-1235_976del
ENST00000473961.6:c.442-1238_850del
ENST00000476777.6:c.442-1238_973del
ENST00000477152.6:c.364-1235_898del
ENST00000478531.6:c.442-1238_784+189del
ENST00000489037.2:c.364-1235_898del
ENST00000493919.6:c.301-1235_646+189del
ENST00000494123.6:c.442-1235_976del
ENST00000497488.2:c.-218-6255_88del
ENST00000618469.2:c.442-1235_976del
ENST00000634433.2:c.442-1235_853del
ENST00000644379.2:c.442-1235_976del
ENST00000644555.2:c.301-1235_646+189del
ENST00000652672.2:c.301-1235_835del
ENST00000484087.6:c.442-1235_664+189del
ENST00000700182.1:c.364-1238_706+189del
ENST00000700183.1:c.*356-1235_*984del
ENST00000357654.9:c.442-1235_976del
ENST00000471181.7:c.442-1235_976del
ENST00000642945.1:c.*316-1235_*850del
ENST00000652672.1:c.301-1235_835del
ENST00000352993.7:c.442-1235_670+1291del
ENST00000354071.7:c.442-1235_976del
ENST00000357654.7:c.442-1235_976del
ENST00000461221.5:c.*228-1238_*759del
ENST00000468300.5:c.442-1235_787+189del
ENST00000470026.5:c.442-1235_976del
ENST00000471181.6:c.442-1235_976del
ENST00000473961.5:c.165-1238_573del
ENST00000477152.5:c.364-1235_898del
ENST00000478531.5:c.442-1238_784+189del
ENST00000484087.5:c.190-1238_409+189del
ENST00000487825.5:c.190-1235_412+189del
ENST00000491747.6:c.442-1235_787+189del
ENST00000492859.5:c.*378-1235_*912del
ENST00000493795.5:c.301-1235_835del
ENST00000493919.5:c.301-1235_646+189del
ENST00000494123.5:c.442-1235_976del
ENST00000497488.1:c.-218-6255_88del
ENST00000586385.5:c.4+24067_5-30604del ENSP00000465818.1:n.4+24067_5-30604del
ENST00000591534.5:c.-44+24156_-43-20034del ENSP00000467329.1:n.-44+24156_-43-20034de...
ENST00000591849.5:c.-99+24156_-99+30716del ENSP00000465347.1:n.-99+24156_-99+30716de...
ENST00000634433.1:c.442-1235_853del
NM_007294.3:c.442-1235_976del , LRG_292t1:c.442-1235_976del
NM_007297.3:c.301-1235_835del
NM_007298.3:c.442-1235_787+189del
NM_007299.3:c.442-1235_787+189del
NM_007300.3:c.442-1235_976del
NR_027676.1:n.581-1238_1112del
NM_007294.4:c.442-1235_976del
NM_007297.4:c.301-1235_835del
NM_007299.4:c.442-1235_787+189del
NM_007300.4:c.442-1235_976del
NR_027676.2:n.622-1238_1153del