Canonical Allele Identifier: CA3249308895

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792321_214792323del , CM000664.2:g.214792321_214792323del	GRCh38
NC_000002.11:g.215657045_215657047del , CM000664.1:g.215657045_215657047del	GRCh37
NC_000002.10:g.215365290_215365292del	NCBI36
NG_012047.2:g.22382_22384del
NG_012047.3:g.22389_22391del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.338_340del MANE Select	NP_000456.2:p.Asn113_Leu114delinsMet
ENST00000260947.9:c.338_340del MANE Select	ENSP00000260947.4:p.Asn113_Leu114delinsMet
NM_000465.3:c.338_340del	NP_000456.2:p.Asn113_Leu114delinsMet
NM_001282543.1:c.281_283del	NP_001269472.1:p.Asn94_Leu95delinsMet
NM_001282543.2:c.281_283del	NP_001269472.1:p.Asn94_Leu95delinsMet
NM_001282545.1:c.215+4738_215+4740del	NP_001269474.1:n.215+4738_215+4740del
NM_001282545.2:c.215+4738_215+4740del	NP_001269474.1:n.215+4738_215+4740del
NM_001282548.1:c.158+17089_158+17091del	NP_001269477.1:n.158+17089_158+17091del
NM_001282548.2:c.158+17089_158+17091del	NP_001269477.1:n.158+17089_158+17091del
NM_001282549.1:c.338_340del	NP_001269478.1:p.Asn113_Leu114delinsMet
NM_001282549.2:c.338_340del	NP_001269478.1:p.Asn113_Leu114delinsMet
NR_104212.1:n.357+4738_357+4740del
NR_104212.2:n.329+4738_329+4740del
NR_104215.1:n.301-10814_301-10812del
NR_104215.2:n.273-10814_273-10812del
NR_104216.1:n.480_482del
NR_104216.2:n.452_454del
ENST00000260947.8:c.338_340del	ENSP00000260947.4:p.Asn113_Leu114delinsMet
ENST00000421162.1:c.215+4738_215+4740del	ENSP00000392245.1:n.215+4738_215+4740del
ENST00000421162.2:c.215+4738_215+4740del	ENSP00000392245.2:n.215+4738_215+4740del
ENST00000455743.5:c.215+4738_215+4740del	ENSP00000412186.1:n.215+4738_215+4740del
ENST00000471787.1:n.260-10814_260-10812del
ENST00000613192.1:c.73+17089_73+17091del	ENSP00000483275.1:n.73+17089_73+17091del
ENST00000613192.2:c.158+17089_158+17091del	ENSP00000483275.2:n.158+17089_158+17091del
ENST00000613374.4:c.158+17089_158+17091del	ENSP00000484464.1:n.158+17089_158+17091del
ENST00000613374.5:c.158+17089_158+17091del	ENSP00000484464.1:n.158+17089_158+17091del
ENST00000613706.4:c.215+4738_215+4740del	ENSP00000484976.1:n.215+4738_215+4740del
ENST00000613706.5:c.338_340del	ENSP00000484976.2:p.Asn113_Leu114delinsMet
ENST00000617164.4:c.281_283del	ENSP00000480470.1:p.Asn94_Leu95delinsMet
ENST00000617164.5:c.281_283del	ENSP00000480470.1:p.Asn94_Leu95delinsMet
ENST00000619009.4:c.338_340del	ENSP00000482293.1:p.Asn113_Leu114delinsMet
ENST00000619009.5:c.338_340del	ENSP00000482293.1:p.Asn113_Leu114delinsMet
ENST00000620057.4:c.338_340del	ENSP00000481988.1:p.Asn113_Leu114delinsMet
ENST00000650978.1:c.180_182del
XM_011511567.1:c.284_286del	XP_011509869.1:p.Asn95_Leu96delinsMet
XM_011511568.1:c.338_340del	XP_011509870.1:p.Asn113_Leu114delinsMet
XM_017004613.1:c.437_439del	XP_016860102.1:p.Asn146_Leu147delinsMet
XM_017004614.1:c.437_439del	XP_016860103.1:p.Asn146_Leu147delinsMet
XR_002959322.1:n.528_530del