Canonical Allele Identifier: CA2662971969

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792167-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792168_214792169del , CM000664.2:g.214792168_214792169del	GRCh38
NC_000002.11:g.215656892_215656893del , CM000664.1:g.215656892_215656893del	GRCh37
NC_000002.10:g.215365137_215365138del	NCBI36
NG_012047.2:g.22536_22537del
NG_012047.3:g.22543_22544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.364+128_364+129del MANE Select	ENSP00000260947.4:n.364+128_364+129del
ENST00000421162.2:c.215+4892_215+4893del	ENSP00000392245.2:n.215+4892_215+4893del
ENST00000613192.2:c.158+17243_158+17244del	ENSP00000483275.2:n.158+17243_158+17244del
ENST00000613374.5:c.158+17243_158+17244del	ENSP00000484464.1:n.158+17243_158+17244del
ENST00000613706.5:c.364+128_364+129del	ENSP00000484976.2:n.364+128_364+129del
ENST00000617164.5:c.307+128_307+129del	ENSP00000480470.1:n.307+128_307+129del
ENST00000619009.5:c.364+128_364+129del	ENSP00000482293.1:n.364+128_364+129del
ENST00000650978.1:c.206+128_206+129del
ENST00000260947.8:c.364+128_364+129del	ENSP00000260947.4:n.364+128_364+129del
ENST00000421162.1:c.215+4892_215+4893del	ENSP00000392245.1:n.215+4892_215+4893del
ENST00000455743.5:c.215+4892_215+4893del	ENSP00000412186.1:n.215+4892_215+4893del
ENST00000471787.1:n.260-10660_260-10659del
ENST00000613192.1:c.73+17243_73+17244del	ENSP00000483275.1:n.73+17243_73+17244del
ENST00000613374.4:c.158+17243_158+17244del	ENSP00000484464.1:n.158+17243_158+17244del
ENST00000613706.4:c.215+4892_215+4893del	ENSP00000484976.1:n.215+4892_215+4893del
ENST00000617164.4:c.307+128_307+129del	ENSP00000480470.1:n.307+128_307+129del
ENST00000619009.4:c.364+128_364+129del	ENSP00000482293.1:n.364+128_364+129del
ENST00000620057.4:c.364+128_364+129del	ENSP00000481988.1:n.364+128_364+129del
NM_000465.3:c.364+128_364+129del	NP_000456.2:n.364+128_364+129del
NM_001282543.1:c.307+128_307+129del	NP_001269472.1:n.307+128_307+129del
NM_001282545.1:c.215+4892_215+4893del	NP_001269474.1:n.215+4892_215+4893del
NM_001282548.1:c.158+17243_158+17244del	NP_001269477.1:n.158+17243_158+17244del
NM_001282549.1:c.364+128_364+129del	NP_001269478.1:n.364+128_364+129del
NR_104212.1:n.357+4892_357+4893del
NR_104215.1:n.301-10660_301-10659del
NR_104216.1:n.506+128_506+129del
XM_011511567.1:c.310+128_310+129del	XP_011509869.1:n.310+128_310+129del
XM_011511568.1:c.364+128_364+129del	XP_011509870.1:n.364+128_364+129del
XM_017004613.1:c.463+128_463+129del	XP_016860102.1:n.463+128_463+129del
XM_017004614.1:c.463+128_463+129del	XP_016860103.1:n.463+128_463+129del
XR_002959322.1:n.554+128_554+129del
NM_000465.4:c.364+128_364+129del MANE Select	NP_000456.2:n.364+128_364+129del
NM_001282543.2:c.307+128_307+129del	NP_001269472.1:n.307+128_307+129del
NM_001282545.2:c.215+4892_215+4893del	NP_001269474.1:n.215+4892_215+4893del
NM_001282548.2:c.158+17243_158+17244del	NP_001269477.1:n.158+17243_158+17244del
NM_001282549.2:c.364+128_364+129del	NP_001269478.1:n.364+128_364+129del
NR_104212.2:n.329+4892_329+4893del
NR_104215.2:n.273-10660_273-10659del
NR_104216.2:n.478+128_478+129del