Canonical Allele Identifier: CA2090041

Gene: BARD1

Linked Data

• dbSNP Id: rs778795932
• ExAC: 2:215593371 CA / C
• gnomAD v2: 2-215593371-CA-C
• gnomAD v4: 2-214728647-CA-C
• MyVariant Identifiers: chr2:g.215593372del (hg19) ; chr2:g.214728648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728649del , CM000664.2:g.214728649del	GRCh38
NC_000002.11:g.215593373del , CM000664.1:g.215593373del	GRCh37
NC_000002.10:g.215301618del	NCBI36
NG_012047.2:g.86057del
NG_012047.3:g.86064del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*28del MANE Select	ENSP00000260947.4:n.*28del
ENST00000613374.5:c.*28del	ENSP00000484464.1:n.*28del
ENST00000613706.5:c.*28del	ENSP00000484976.2:n.*28del
ENST00000617164.5:c.*28del	ENSP00000480470.1:n.*28del
ENST00000619009.5:c.*28del	ENSP00000482293.1:n.*28del
ENST00000650978.1:c.3737del
ENST00000260947.8:c.*28del	ENSP00000260947.4:n.*28del
ENST00000432456.5:c.505del
ENST00000471590.5:n.697del
ENST00000613374.4:c.*28del	ENSP00000484464.1:n.*28del
ENST00000613706.4:c.*28del	ENSP00000484976.1:n.*28del
ENST00000617164.4:c.*28del	ENSP00000480470.1:n.*28del
ENST00000619009.4:c.*28del	ENSP00000482293.1:n.*28del
NM_000465.3:c.*28del	NP_000456.2:n.*28del
NM_001282543.1:c.*28del	NP_001269472.1:n.*28del
NM_001282545.1:c.*28del	NP_001269474.1:n.*28del
NM_001282548.1:c.*28del	NP_001269477.1:n.*28del
NM_001282549.1:c.*28del	NP_001269478.1:n.*28del
NR_104212.1:n.2355del
NR_104215.1:n.2298del
NR_104216.1:n.1554del
XM_011511567.1:c.*28del	XP_011509869.1:n.*28del
XM_017004613.1:c.*28del	XP_016860102.1:n.*28del
XR_002959322.1:n.2728del
NM_000465.4:c.*28del MANE Select	NP_000456.2:n.*28del
NM_001282543.2:c.*28del	NP_001269472.1:n.*28del
NM_001282545.2:c.*28del	NP_001269474.1:n.*28del
NM_001282548.2:c.*28del	NP_001269477.1:n.*28del
NM_001282549.2:c.*28del	NP_001269478.1:n.*28del
NR_104212.2:n.2327del
NR_104215.2:n.2270del
NR_104216.2:n.1526del