Canonical Allele Identifier: CA2499215601
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049655
ClinVar RCV Id: RCV001356045

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728674_214731010del , CM000664.2:g.214728674_214731010del GRCh38
NC_000002.11:g.215593398_215595734del , CM000664.1:g.215593398_215595734del GRCh37
NC_000002.10:g.215301643_215303979del NCBI36
NG_012047.2:g.83695_86031del
NG_012047.3:g.83702_86038del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1904-502_*2del
ENST00000613374.5:c.494-502_*2del
ENST00000613706.5:c.1496-502_*2del
ENST00000617164.5:c.1847-502_*2del
ENST00000619009.5:c.365-502_*2del
ENST00000650978.1:c.3279-502_3711del
ENST00000260947.8:c.1904-502_*2del
ENST00000471590.5:n.136_671del
ENST00000613374.4:c.494-502_*2del
ENST00000613706.4:c.551-502_*2del
ENST00000617164.4:c.1847-502_*2del
ENST00000619009.4:c.365-502_*2del
NM_000465.3:c.1904-502_*2del
NM_001282543.1:c.1847-502_*2del
NM_001282545.1:c.551-502_*2del
NM_001282548.1:c.494-502_*2del
NM_001282549.1:c.365-502_*2del
NR_104212.1:n.1897-502_2329del
NR_104215.1:n.1840-502_2272del
NR_104216.1:n.1096-502_1528del
XM_011511567.1:c.1850-502_*2del
XM_017004613.1:c.2003-502_*2del
XR_002959322.1:n.2094-502_2702del
NM_000465.4:c.1904-502_*2del
NM_001282543.2:c.1847-502_*2del
NM_001282545.2:c.551-502_*2del
NM_001282548.2:c.494-502_*2del
NM_001282549.2:c.365-502_*2del
NR_104212.2:n.1869-502_2301del
NR_104215.2:n.1812-502_2244del
NR_104216.2:n.1068-502_1500del