Canonical Allele Identifier: CA431137485

Gene: BARD1

Linked Data

• dbSNP Id: rs113789798
• gnomAD v2: 2-215593261-CTT-C
• gnomAD v3: 2-214728537-CTT-C
• gnomAD v4: 2-214728537-CTT-C
• MyVariant Identifiers: chr2:g.215593262_215593263del (hg19) ; chr2:g.214728538_214728539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728551_214728552del , CM000664.2:g.214728551_214728552del	GRCh38
NC_000002.11:g.215593275_215593276del , CM000664.1:g.215593275_215593276del	GRCh37
NC_000002.10:g.215301520_215301521del	NCBI36
NG_012047.2:g.86166_86167del
NG_012047.3:g.86173_86174del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*137_*138del MANE Select	ENSP00000260947.4:n.*137_*138del
ENST00000260947.8:c.*137_*138del	ENSP00000260947.4:n.*137_*138del
ENST00000432456.5:c.614_615del
ENST00000471590.5:n.806_807del
ENST00000613374.4:c.*137_*138del	ENSP00000484464.1:n.*137_*138del
ENST00000613706.4:c.*137_*138del	ENSP00000484976.1:n.*137_*138del
ENST00000617164.4:c.*137_*138del	ENSP00000480470.1:n.*137_*138del
ENST00000619009.4:c.*137_*138del	ENSP00000482293.1:n.*137_*138del
NM_000465.3:c.*137_*138del	NP_000456.2:n.*137_*138del
NM_001282543.1:c.*137_*138del	NP_001269472.1:n.*137_*138del
NM_001282545.1:c.*137_*138del	NP_001269474.1:n.*137_*138del
NM_001282548.1:c.*137_*138del	NP_001269477.1:n.*137_*138del
NM_001282549.1:c.*137_*138del	NP_001269478.1:n.*137_*138del
NR_104212.1:n.2464_2465del
NR_104215.1:n.2407_2408del
NR_104216.1:n.1663_1664del
XM_011511567.1:c.*137_*138del	XP_011509869.1:n.*137_*138del
XM_017004613.1:c.*137_*138del	XP_016860102.1:n.*137_*138del
XR_002959322.1:n.2837_2838del
NM_000465.4:c.*137_*138del MANE Select	NP_000456.2:n.*137_*138del
NM_001282543.2:c.*137_*138del	NP_001269472.1:n.*137_*138del
NM_001282545.2:c.*137_*138del	NP_001269474.1:n.*137_*138del
NM_001282548.2:c.*137_*138del	NP_001269477.1:n.*137_*138del
NM_001282549.2:c.*137_*138del	NP_001269478.1:n.*137_*138del
NR_104212.2:n.2436_2437del
NR_104215.2:n.2379_2380del
NR_104216.2:n.1635_1636del