Canonical Allele Identifier: CA1327053393

Gene: BARD1

Linked Data

• dbSNP Id: rs1693046050
• gnomAD v4: 2-214745183-GAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745191_214745194del , CM000664.2:g.214745191_214745194del	GRCh38
NC_000002.11:g.215609915_215609918del , CM000664.1:g.215609915_215609918del	GRCh37
NC_000002.10:g.215318160_215318163del	NCBI36
NG_012047.2:g.69518_69521del
NG_012047.3:g.69525_69528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1811-28_1811-25del MANE Select	ENSP00000260947.4:n.1811-28_1811-25del
ENST00000421162.2:c.458-28_458-25del	ENSP00000392245.2:n.458-28_458-25del
ENST00000613192.2:c.159-14679_159-14676del	ENSP00000483275.2:n.159-14679_159-14676del
ENST00000613374.5:c.401-28_401-25del	ENSP00000484464.1:n.401-28_401-25del
ENST00000613706.5:c.1403-28_1403-25del	ENSP00000484976.2:n.1403-28_1403-25del
ENST00000617164.5:c.1754-28_1754-25del	ENSP00000480470.1:n.1754-28_1754-25del
ENST00000619009.5:c.365-14679_365-14676del	ENSP00000482293.1:n.365-14679_365-14676del
ENST00000650978.1:c.3186-28_3186-25del
ENST00000260947.8:c.1811-28_1811-25del	ENSP00000260947.4:n.1811-28_1811-25del
ENST00000421162.1:c.458-28_458-25del	ENSP00000392245.1:n.458-28_458-25del
ENST00000455743.5:c.*1431-28_*1431-25del	ENSP00000412186.1:n.*1431-28_*1431-25del
ENST00000613192.1:c.74-14679_74-14676del	ENSP00000483275.1:n.74-14679_74-14676del
ENST00000613374.4:c.401-28_401-25del	ENSP00000484464.1:n.401-28_401-25del
ENST00000613706.4:c.458-28_458-25del	ENSP00000484976.1:n.458-28_458-25del
ENST00000617164.4:c.1754-28_1754-25del	ENSP00000480470.1:n.1754-28_1754-25del
ENST00000619009.4:c.365-14679_365-14676del	ENSP00000482293.1:n.365-14679_365-14676del
ENST00000620057.4:c.*477-28_*477-25del	ENSP00000481988.1:n.*477-28_*477-25del
NM_000465.3:c.1811-28_1811-25del	NP_000456.2:n.1811-28_1811-25del
NM_001282543.1:c.1754-28_1754-25del	NP_001269472.1:n.1754-28_1754-25del
NM_001282545.1:c.458-28_458-25del	NP_001269474.1:n.458-28_458-25del
NM_001282548.1:c.401-28_401-25del	NP_001269477.1:n.401-28_401-25del
NM_001282549.1:c.365-14679_365-14676del	NP_001269478.1:n.365-14679_365-14676del
NR_104212.1:n.1804-28_1804-25del
NR_104215.1:n.1747-28_1747-25del
NR_104216.1:n.1003-28_1003-25del
XM_011511567.1:c.1757-28_1757-25del	XP_011509869.1:n.1757-28_1757-25del
XM_011511568.1:c.1811-28_1811-25del	XP_011509870.1:n.1811-28_1811-25del
XM_017004613.1:c.1910-28_1910-25del	XP_016860102.1:n.1910-28_1910-25del
XM_017004614.1:c.1910-28_1910-25del	XP_016860103.1:n.1910-28_1910-25del
XR_002959322.1:n.2001-28_2001-25del
NM_000465.4:c.1811-28_1811-25del MANE Select	NP_000456.2:n.1811-28_1811-25del
NM_001282543.2:c.1754-28_1754-25del	NP_001269472.1:n.1754-28_1754-25del
NM_001282545.2:c.458-28_458-25del	NP_001269474.1:n.458-28_458-25del
NM_001282548.2:c.401-28_401-25del	NP_001269477.1:n.401-28_401-25del
NM_001282549.2:c.365-14679_365-14676del	NP_001269478.1:n.365-14679_365-14676del
NR_104212.2:n.1776-28_1776-25del
NR_104215.2:n.1719-28_1719-25del
NR_104216.2:n.975-28_975-25del