Canonical Allele Identifier: CA764559673

Gene: BARD1

Linked Data

• dbSNP Id: rs1322235904
• MyVariant Identifiers: chr2:g.215595183_215595185del (hg19) ; chr2:g.214730459_214730461del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730459_214730461del , CM000664.2:g.214730459_214730461del	GRCh38
NC_000002.11:g.215595183_215595185del , CM000664.1:g.215595183_215595185del	GRCh37
NC_000002.10:g.215303428_215303430del	NCBI36
NG_012047.2:g.84244_84246del
NG_012047.3:g.84251_84253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1951_1953del MANE Select	ENSP00000260947.4:p.Tyr651del
ENST00000421162.2:c.598_600del	ENSP00000392245.2:p.Tyr200del
ENST00000613192.2:c.*14_*16del	ENSP00000483275.2:n.*14_*16del
ENST00000613374.5:c.541_543del	ENSP00000484464.1:p.Tyr181del
ENST00000613706.5:c.1543_1545del	ENSP00000484976.2:p.Tyr515del
ENST00000617164.5:c.1894_1896del	ENSP00000480470.1:p.Tyr632del
ENST00000619009.5:c.412_414del	ENSP00000482293.1:p.Tyr138del
ENST00000650978.1:c.3326_3328del
ENST00000260947.8:c.1951_1953del	ENSP00000260947.4:p.Tyr651del
ENST00000421162.1:c.598_600del	ENSP00000392245.1:p.Tyr200del
ENST00000432456.5:c.48_50del
ENST00000455743.5:c.*1571_*1573del	ENSP00000412186.1:n.*1571_*1573del
ENST00000471590.5:n.286_288del
ENST00000613192.1:c.121_123del	ENSP00000483275.1:p.Tyr41del
ENST00000613374.4:c.541_543del	ENSP00000484464.1:p.Tyr181del
ENST00000613706.4:c.598_600del	ENSP00000484976.1:p.Tyr200del
ENST00000617164.4:c.1894_1896del	ENSP00000480470.1:p.Tyr632del
ENST00000619009.4:c.412_414del	ENSP00000482293.1:p.Tyr138del
ENST00000620057.4:c.*617_*619del	ENSP00000481988.1:n.*617_*619del
NM_000465.3:c.1951_1953del	NP_000456.2:p.Tyr651del
NM_001282543.1:c.1894_1896del	NP_001269472.1:p.Tyr632del
NM_001282545.1:c.598_600del	NP_001269474.1:p.Tyr200del
NM_001282548.1:c.541_543del	NP_001269477.1:p.Tyr181del
NM_001282549.1:c.412_414del	NP_001269478.1:p.Tyr138del
NR_104212.1:n.1944_1946del
NR_104215.1:n.1887_1889del
NR_104216.1:n.1143_1145del
XM_011511567.1:c.1897_1899del	XP_011509869.1:p.Tyr633del
XM_017004613.1:c.2050_2052del	XP_016860102.1:p.Tyr684del
XR_002959322.1:n.2141_2143del
NM_000465.4:c.1951_1953del MANE Select	NP_000456.2:p.Tyr651del
NM_001282543.2:c.1894_1896del	NP_001269472.1:p.Tyr632del
NM_001282545.2:c.598_600del	NP_001269474.1:p.Tyr200del
NM_001282548.2:c.541_543del	NP_001269477.1:p.Tyr181del
NM_001282549.2:c.412_414del	NP_001269478.1:p.Tyr138del
NR_104212.2:n.1916_1918del
NR_104215.2:n.1859_1861del
NR_104216.2:n.1115_1117del