Canonical Allele Identifier: CA2662972041

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792238-A-ACTTTATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792238_214792239insCTTTATG , CM000664.2:g.214792238_214792239insCTTTATG	GRCh38
NC_000002.11:g.215656962_215656963insCTTTATG , CM000664.1:g.215656962_215656963insCTTTATG	GRCh37
NC_000002.10:g.215365207_215365208insCTTTATG	NCBI36
NG_012047.2:g.22466_22467insCATAAAG
NG_012047.3:g.22473_22474insCATAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.364+58_364+59insCATAAAG MANE Select	ENSP00000260947.4:n.364+58_364+59insCATAA...
ENST00000421162.2:c.215+4822_215+4823insCATAAAG	ENSP00000392245.2:n.215+4822_215+4823insC...
ENST00000613192.2:c.158+17173_158+17174insCATAAAG	ENSP00000483275.2:n.158+17173_158+17174in...
ENST00000613374.5:c.158+17173_158+17174insCATAAAG	ENSP00000484464.1:n.158+17173_158+17174in...
ENST00000613706.5:c.364+58_364+59insCATAAAG	ENSP00000484976.2:n.364+58_364+59insCATAA...
ENST00000617164.5:c.307+58_307+59insCATAAAG	ENSP00000480470.1:n.307+58_307+59insCATAA...
ENST00000619009.5:c.364+58_364+59insCATAAAG	ENSP00000482293.1:n.364+58_364+59insCATAA...
ENST00000650978.1:c.206+58_206+59insCATAAAG
ENST00000260947.8:c.364+58_364+59insCATAAAG	ENSP00000260947.4:n.364+58_364+59insCATAA...
ENST00000421162.1:c.215+4822_215+4823insCATAAAG	ENSP00000392245.1:n.215+4822_215+4823insC...
ENST00000455743.5:c.215+4822_215+4823insCATAAAG	ENSP00000412186.1:n.215+4822_215+4823insC...
ENST00000471787.1:n.260-10730_260-10729insCATAAAG
ENST00000613192.1:c.73+17173_73+17174insCATAAAG	ENSP00000483275.1:n.73+17173_73+17174insC...
ENST00000613374.4:c.158+17173_158+17174insCATAAAG	ENSP00000484464.1:n.158+17173_158+17174in...
ENST00000613706.4:c.215+4822_215+4823insCATAAAG	ENSP00000484976.1:n.215+4822_215+4823insC...
ENST00000617164.4:c.307+58_307+59insCATAAAG	ENSP00000480470.1:n.307+58_307+59insCATAA...
ENST00000619009.4:c.364+58_364+59insCATAAAG	ENSP00000482293.1:n.364+58_364+59insCATAA...
ENST00000620057.4:c.364+58_364+59insCATAAAG	ENSP00000481988.1:n.364+58_364+59insCATAA...
NM_000465.3:c.364+58_364+59insCATAAAG	NP_000456.2:n.364+58_364+59insCATAAAG
NM_001282543.1:c.307+58_307+59insCATAAAG	NP_001269472.1:n.307+58_307+59insCATAAAG
NM_001282545.1:c.215+4822_215+4823insCATAAAG	NP_001269474.1:n.215+4822_215+4823insCATA...
NM_001282548.1:c.158+17173_158+17174insCATAAAG	NP_001269477.1:n.158+17173_158+17174insCA...
NM_001282549.1:c.364+58_364+59insCATAAAG	NP_001269478.1:n.364+58_364+59insCATAAAG
NR_104212.1:n.357+4822_357+4823insCATAAAG
NR_104215.1:n.301-10730_301-10729insCATAAAG
NR_104216.1:n.506+58_506+59insCATAAAG
XM_011511567.1:c.310+58_310+59insCATAAAG	XP_011509869.1:n.310+58_310+59insCATAAAG
XM_011511568.1:c.364+58_364+59insCATAAAG	XP_011509870.1:n.364+58_364+59insCATAAAG
XM_017004613.1:c.463+58_463+59insCATAAAG	XP_016860102.1:n.463+58_463+59insCATAAAG
XM_017004614.1:c.463+58_463+59insCATAAAG	XP_016860103.1:n.463+58_463+59insCATAAAG
XR_002959322.1:n.554+58_554+59insCATAAAG
NM_000465.4:c.364+58_364+59insCATAAAG MANE Select	NP_000456.2:n.364+58_364+59insCATAAAG
NM_001282543.2:c.307+58_307+59insCATAAAG	NP_001269472.1:n.307+58_307+59insCATAAAG
NM_001282545.2:c.215+4822_215+4823insCATAAAG	NP_001269474.1:n.215+4822_215+4823insCATA...
NM_001282548.2:c.158+17173_158+17174insCATAAAG	NP_001269477.1:n.158+17173_158+17174insCA...
NM_001282549.2:c.364+58_364+59insCATAAAG	NP_001269478.1:n.364+58_364+59insCATAAAG
NR_104212.2:n.329+4822_329+4823insCATAAAG
NR_104215.2:n.273-10730_273-10729insCATAAAG
NR_104216.2:n.478+58_478+59insCATAAAG