Canonical Allele Identifier: CA3273052450

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728757_214728759delinsTCC , CM000664.2:g.214728757_214728759delinsTCC	GRCh38
NC_000002.11:g.215593481_215593483delinsTCC , CM000664.1:g.215593481_215593483delinsTCC	GRCh37
NC_000002.10:g.215301726_215301728delinsTCC	NCBI36
NG_012047.2:g.85946_85948delinsGGA
NG_012047.3:g.85953_85955delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.2251_2253delinsGGA MANE Select	NP_000456.2:p.Arg751Gly
ENST00000260947.9:c.2251_2253delinsGGA MANE Select	ENSP00000260947.4:p.Arg751Gly
NM_000465.3:c.2251_2253delinsGGA	NP_000456.2:p.Arg751Gly
NM_001282543.1:c.2194_2196delinsGGA	NP_001269472.1:p.Arg732Gly
NM_001282543.2:c.2194_2196delinsGGA	NP_001269472.1:p.Arg732Gly
NM_001282545.1:c.898_900delinsGGA	NP_001269474.1:p.Arg300Gly
NM_001282545.2:c.898_900delinsGGA	NP_001269474.1:p.Arg300Gly
NM_001282548.1:c.841_843delinsGGA	NP_001269477.1:p.Arg281Gly
NM_001282548.2:c.841_843delinsGGA	NP_001269477.1:p.Arg281Gly
NM_001282549.1:c.712_714delinsGGA	NP_001269478.1:p.Arg238Gly
NM_001282549.2:c.712_714delinsGGA	NP_001269478.1:p.Arg238Gly
NR_104212.1:n.2244_2246delinsGGA
NR_104212.2:n.2216_2218delinsGGA
NR_104215.1:n.2187_2189delinsGGA
NR_104215.2:n.2159_2161delinsGGA
NR_104216.1:n.1443_1445delinsGGA
NR_104216.2:n.1415_1417delinsGGA
ENST00000260947.8:c.2251_2253delinsGGA	ENSP00000260947.4:p.Arg751Gly
ENST00000421162.2:c.898_900delinsGGA	ENSP00000392245.2:p.Arg300Gly
ENST00000432456.5:c.394_396delinsGGA
ENST00000455743.5:c.*1871_*1873delinsGGA	ENSP00000412186.1:n.*1871_*1873delinsGGA
ENST00000471590.5:n.586_588delinsGGA
ENST00000613192.1:c.421_423delinsGGA	ENSP00000483275.1:p.Arg141Gly
ENST00000613192.2:c.*314_*316delinsGGA	ENSP00000483275.2:n.*314_*316delinsGGA
ENST00000613374.4:c.841_843delinsGGA	ENSP00000484464.1:p.Arg281Gly
ENST00000613374.5:c.841_843delinsGGA	ENSP00000484464.1:p.Arg281Gly
ENST00000613706.4:c.898_900delinsGGA	ENSP00000484976.1:p.Arg300Gly
ENST00000613706.5:c.1843_1845delinsGGA	ENSP00000484976.2:p.Arg615Gly
ENST00000617164.4:c.2194_2196delinsGGA	ENSP00000480470.1:p.Arg732Gly
ENST00000617164.5:c.2194_2196delinsGGA	ENSP00000480470.1:p.Arg732Gly
ENST00000619009.4:c.712_714delinsGGA	ENSP00000482293.1:p.Arg238Gly
ENST00000619009.5:c.712_714delinsGGA	ENSP00000482293.1:p.Arg238Gly
ENST00000620057.4:c.*917_*919delinsGGA	ENSP00000481988.1:n.*917_*919delinsGGA
ENST00000650978.1:c.3626_3628delinsGGA
XM_011511567.1:c.2197_2199delinsGGA	XP_011509869.1:p.Arg733Gly
XM_017004613.1:c.2350_2352delinsGGA	XP_016860102.1:p.Arg784Gly
XR_002959322.1:n.2617_2619delinsGGA