Canonical Allele Identifier: CA10584174

Gene: BARD1

Linked Data

• ClinVar Variation Id: 246449
• ClinVar RCV Id: RCV000235865 ; RCV003335288
• dbSNP Id: rs879254264
• MyVariant Identifiers: chr2:g.215609885_215609893del (hg19) ; chr2:g.214745161_214745169del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745161_214745169del , CM000664.2:g.214745161_214745169del	GRCh38
NC_000002.11:g.215609885_215609893del , CM000664.1:g.215609885_215609893del	GRCh37
NC_000002.10:g.215318130_215318138del	NCBI36
NG_012047.2:g.69536_69544del
NG_012047.3:g.69543_69551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1811-10_1811-2del MANE Select	ENSP00000260947.4:n.1811-10_1811-2del
ENST00000421162.2:c.458-10_458-2del	ENSP00000392245.2:n.458-10_458-2del
ENST00000613192.2:c.159-14661_159-14653del	ENSP00000483275.2:n.159-14661_159-14653del
ENST00000613374.5:c.401-10_401-2del	ENSP00000484464.1:n.401-10_401-2del
ENST00000613706.5:c.1403-10_1403-2del	ENSP00000484976.2:n.1403-10_1403-2del
ENST00000617164.5:c.1754-10_1754-2del	ENSP00000480470.1:n.1754-10_1754-2del
ENST00000619009.5:c.365-14661_365-14653del	ENSP00000482293.1:n.365-14661_365-14653del
ENST00000650978.1:c.3186-10_3186-2del
ENST00000260947.8:c.1811-10_1811-2del	ENSP00000260947.4:n.1811-10_1811-2del
ENST00000421162.1:c.458-10_458-2del	ENSP00000392245.1:n.458-10_458-2del
ENST00000455743.5:c.*1431-10_*1431-2del	ENSP00000412186.1:n.*1431-10_*1431-2del
ENST00000613192.1:c.74-14661_74-14653del	ENSP00000483275.1:n.74-14661_74-14653del
ENST00000613374.4:c.401-10_401-2del	ENSP00000484464.1:n.401-10_401-2del
ENST00000613706.4:c.458-10_458-2del	ENSP00000484976.1:n.458-10_458-2del
ENST00000617164.4:c.1754-10_1754-2del	ENSP00000480470.1:n.1754-10_1754-2del
ENST00000619009.4:c.365-14661_365-14653del	ENSP00000482293.1:n.365-14661_365-14653del
ENST00000620057.4:c.*477-10_*477-2del	ENSP00000481988.1:n.*477-10_*477-2del
NM_000465.3:c.1811-10_1811-2del	NP_000456.2:n.1811-10_1811-2del
NM_001282543.1:c.1754-10_1754-2del	NP_001269472.1:n.1754-10_1754-2del
NM_001282545.1:c.458-10_458-2del	NP_001269474.1:n.458-10_458-2del
NM_001282548.1:c.401-10_401-2del	NP_001269477.1:n.401-10_401-2del
NM_001282549.1:c.365-14661_365-14653del	NP_001269478.1:n.365-14661_365-14653del
NR_104212.1:n.1804-10_1804-2del
NR_104215.1:n.1747-10_1747-2del
NR_104216.1:n.1003-10_1003-2del
XM_011511567.1:c.1757-10_1757-2del	XP_011509869.1:n.1757-10_1757-2del
XM_011511568.1:c.1811-10_1811-2del	XP_011509870.1:n.1811-10_1811-2del
XM_017004613.1:c.1910-10_1910-2del	XP_016860102.1:n.1910-10_1910-2del
XM_017004614.1:c.1910-10_1910-2del	XP_016860103.1:n.1910-10_1910-2del
XR_002959322.1:n.2001-10_2001-2del
NM_000465.4:c.1811-10_1811-2del MANE Select	NP_000456.2:n.1811-10_1811-2del
NM_001282543.2:c.1754-10_1754-2del	NP_001269472.1:n.1754-10_1754-2del
NM_001282545.2:c.458-10_458-2del	NP_001269474.1:n.458-10_458-2del
NM_001282548.2:c.401-10_401-2del	NP_001269477.1:n.401-10_401-2del
NM_001282549.2:c.365-14661_365-14653del	NP_001269478.1:n.365-14661_365-14653del
NR_104212.2:n.1776-10_1776-2del
NR_104215.2:n.1719-10_1719-2del
NR_104216.2:n.975-10_975-2del