Canonical Allele Identifier: CA2740366950

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780757del , CM000664.2:g.214780757del	GRCh38
NC_000002.11:g.215645481del , CM000664.1:g.215645481del	GRCh37
NC_000002.10:g.215353726del	NCBI36
NG_012047.2:g.33949del
NG_012047.3:g.33956del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1118del MANE Select	ENSP00000260947.4:p.Gly373ValfsTer27
ENST00000421162.2:c.215+16305del	ENSP00000392245.2:n.215+16305del
ENST00000613192.2:c.158+28656del	ENSP00000483275.2:n.158+28656del
ENST00000613374.5:c.159-28201del	ENSP00000484464.1:n.159-28201del
ENST00000613706.5:c.906+212del	ENSP00000484976.2:n.906+212del
ENST00000617164.5:c.1061del	ENSP00000480470.1:p.Gly354ValfsTer27
ENST00000619009.5:c.364+11541del	ENSP00000482293.1:n.364+11541del
ENST00000650978.1:c.960del
ENST00000260947.8:c.1118del	ENSP00000260947.4:p.Gly373ValfsTer27
ENST00000421162.1:c.215+16305del	ENSP00000392245.1:n.215+16305del
ENST00000455743.5:c.*738del	ENSP00000412186.1:n.*738del
ENST00000613192.1:c.73+28656del	ENSP00000483275.1:n.73+28656del
ENST00000613374.4:c.159-28201del	ENSP00000484464.1:n.159-28201del
ENST00000613706.4:c.215+16305del	ENSP00000484976.1:n.215+16305del
ENST00000617164.4:c.1061del	ENSP00000480470.1:p.Gly354ValfsTer27
ENST00000619009.4:c.364+11541del	ENSP00000482293.1:n.364+11541del
ENST00000620057.4:c.365-11444del	ENSP00000481988.1:n.365-11444del
NM_000465.3:c.1118del	NP_000456.2:p.Gly373ValfsTer27
NM_001282543.1:c.1061del	NP_001269472.1:p.Gly354ValfsTer27
NM_001282545.1:c.215+16305del	NP_001269474.1:n.215+16305del
NM_001282548.1:c.159-28201del	NP_001269477.1:n.159-28201del
NM_001282549.1:c.364+11541del	NP_001269478.1:n.364+11541del
NR_104212.1:n.1111del
NR_104215.1:n.1054del
NR_104216.1:n.507-11444del
XM_011511567.1:c.1064del	XP_011509869.1:p.Gly355ValfsTer27
XM_011511568.1:c.1118del	XP_011509870.1:p.Gly373ValfsTer27
XM_017004613.1:c.1217del	XP_016860102.1:p.Gly406ValfsTer27
XM_017004614.1:c.1217del	XP_016860103.1:p.Gly406ValfsTer27
XR_002959322.1:n.1308del
NM_000465.4:c.1118del MANE Select	NP_000456.2:p.Gly373ValfsTer27
NM_001282543.2:c.1061del	NP_001269472.1:p.Gly354ValfsTer27
NM_001282545.2:c.215+16305del	NP_001269474.1:n.215+16305del
NM_001282548.2:c.159-28201del	NP_001269477.1:n.159-28201del
NM_001282549.2:c.364+11541del	NP_001269478.1:n.364+11541del
NR_104212.2:n.1083del
NR_104215.2:n.1026del
NR_104216.2:n.479-11444del