Canonical Allele Identifier: CA658657224

Gene: BARD1

Linked Data

• ClinVar Variation Id: 481371
• ClinVar RCV Id: RCV000568695
• dbSNP Id: rs1553615184
• gnomAD v4: 2-214745853-ATC-A
• MyVariant Identifiers: chr2:g.215610578_215610579del (hg19) ; chr2:g.214745854_214745855del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745855_214745856del , CM000664.2:g.214745855_214745856del	GRCh38
NC_000002.11:g.215610579_215610580del , CM000664.1:g.215610579_215610580del	GRCh37
NC_000002.10:g.215318824_215318825del	NCBI36
NG_012047.2:g.68850_68851del
NG_012047.3:g.68857_68858del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1678-1_1678del
ENST00000421162.2:c.325-1_325del
ENST00000613192.2:c.159-15347_159-15346del	ENSP00000483275.2:n.159-15347_159-15346del
ENST00000613374.5:c.268-1_268del
ENST00000613706.5:c.1270-1_1270del
ENST00000617164.5:c.1621-1_1621del
ENST00000619009.5:c.365-15347_365-15346del	ENSP00000482293.1:n.365-15347_365-15346del
ENST00000650978.1:c.3053-1_3053del
ENST00000260947.8:c.1678-1_1678del
ENST00000421162.1:c.325-1_325del
ENST00000455743.5:c.*1298-1_*1298del
ENST00000465841.1:n.33-1_33del
ENST00000613192.1:c.74-15347_74-15346del	ENSP00000483275.1:n.74-15347_74-15346del
ENST00000613374.4:c.268-1_268del
ENST00000613706.4:c.325-1_325del
ENST00000617164.4:c.1621-1_1621del
ENST00000619009.4:c.365-15347_365-15346del	ENSP00000482293.1:n.365-15347_365-15346del
ENST00000620057.4:c.*344-1_*344del
NM_000465.3:c.1678-1_1678del
NM_001282543.1:c.1621-1_1621del
NM_001282545.1:c.325-1_325del
NM_001282548.1:c.268-1_268del
NM_001282549.1:c.365-15347_365-15346del	NP_001269478.1:n.365-15347_365-15346del
NR_104212.1:n.1671-1_1671del
NR_104215.1:n.1614-1_1614del
NR_104216.1:n.870-1_870del
XM_011511567.1:c.1624-1_1624del
XM_011511568.1:c.1678-1_1678del
XM_017004613.1:c.1777-1_1777del
XM_017004614.1:c.1777-1_1777del
XR_002959322.1:n.1868-1_1868del
NM_000465.4:c.1678-1_1678del
NM_001282543.2:c.1621-1_1621del
NM_001282545.2:c.325-1_325del
NM_001282548.2:c.268-1_268del
NM_001282549.2:c.365-15347_365-15346del	NP_001269478.1:n.365-15347_365-15346del
NR_104212.2:n.1643-1_1643del
NR_104215.2:n.1586-1_1586del
NR_104216.2:n.842-1_842del