Canonical Allele Identifier: CA1042188968

Gene: BARD1

Linked Data

• dbSNP Id: rs1695536037
• gnomAD v3: 2-214792021-CA-C
• gnomAD v4: 2-214792021-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792025del , CM000664.2:g.214792025del	GRCh38
NC_000002.11:g.215656749del , CM000664.1:g.215656749del	GRCh37
NC_000002.10:g.215364994del	NCBI36
NG_012047.2:g.22683del
NG_012047.3:g.22690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.364+275del MANE Select	ENSP00000260947.4:n.364+275del
ENST00000421162.2:c.215+5039del	ENSP00000392245.2:n.215+5039del
ENST00000613192.2:c.158+17390del	ENSP00000483275.2:n.158+17390del
ENST00000613374.5:c.158+17390del	ENSP00000484464.1:n.158+17390del
ENST00000613706.5:c.364+275del	ENSP00000484976.2:n.364+275del
ENST00000617164.5:c.307+275del	ENSP00000480470.1:n.307+275del
ENST00000619009.5:c.364+275del	ENSP00000482293.1:n.364+275del
ENST00000650978.1:c.206+275del
ENST00000260947.8:c.364+275del	ENSP00000260947.4:n.364+275del
ENST00000421162.1:c.215+5039del	ENSP00000392245.1:n.215+5039del
ENST00000455743.5:c.215+5039del	ENSP00000412186.1:n.215+5039del
ENST00000471787.1:n.260-10513del
ENST00000613192.1:c.73+17390del	ENSP00000483275.1:n.73+17390del
ENST00000613374.4:c.158+17390del	ENSP00000484464.1:n.158+17390del
ENST00000613706.4:c.215+5039del	ENSP00000484976.1:n.215+5039del
ENST00000617164.4:c.307+275del	ENSP00000480470.1:n.307+275del
ENST00000619009.4:c.364+275del	ENSP00000482293.1:n.364+275del
ENST00000620057.4:c.364+275del	ENSP00000481988.1:n.364+275del
NM_000465.3:c.364+275del	NP_000456.2:n.364+275del
NM_001282543.1:c.307+275del	NP_001269472.1:n.307+275del
NM_001282545.1:c.215+5039del	NP_001269474.1:n.215+5039del
NM_001282548.1:c.158+17390del	NP_001269477.1:n.158+17390del
NM_001282549.1:c.364+275del	NP_001269478.1:n.364+275del
NR_104212.1:n.357+5039del
NR_104215.1:n.301-10513del
NR_104216.1:n.506+275del
XM_011511567.1:c.310+275del	XP_011509869.1:n.310+275del
XM_011511568.1:c.364+275del	XP_011509870.1:n.364+275del
XM_017004613.1:c.463+275del	XP_016860102.1:n.463+275del
XM_017004614.1:c.463+275del	XP_016860103.1:n.463+275del
XR_002959322.1:n.554+275del
NM_000465.4:c.364+275del MANE Select	NP_000456.2:n.364+275del
NM_001282543.2:c.307+275del	NP_001269472.1:n.307+275del
NM_001282545.2:c.215+5039del	NP_001269474.1:n.215+5039del
NM_001282548.2:c.158+17390del	NP_001269477.1:n.158+17390del
NM_001282549.2:c.364+275del	NP_001269478.1:n.364+275del
NR_104212.2:n.329+5039del
NR_104215.2:n.273-10513del
NR_104216.2:n.478+275del