Canonical Allele Identifier: CA539521960

Gene: BARD1

Linked Data

• dbSNP Id: rs1365677791
• gnomAD v2: 2-215661747-TAC-T
• gnomAD v3: 2-214797023-TAC-T
• gnomAD v4: 2-214797023-TAC-T
• MyVariant Identifiers: chr2:g.215661748_215661749del (hg19) ; chr2:g.214797024_214797025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214797025_214797026del , CM000664.2:g.214797025_214797026del	GRCh38
NC_000002.11:g.215661749_215661750del , CM000664.1:g.215661749_215661750del	GRCh37
NC_000002.10:g.215369994_215369995del	NCBI36
NG_012047.2:g.17680_17681del
NG_012047.3:g.17687_17688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.215+36_215+37del MANE Select	ENSP00000260947.4:n.215+36_215+37del
ENST00000421162.2:c.215+36_215+37del	ENSP00000392245.2:n.215+36_215+37del
ENST00000613192.2:c.158+12387_158+12388del	ENSP00000483275.2:n.158+12387_158+12388del
ENST00000613374.5:c.158+12387_158+12388del	ENSP00000484464.1:n.158+12387_158+12388del
ENST00000613706.5:c.215+36_215+37del	ENSP00000484976.2:n.215+36_215+37del
ENST00000617164.5:c.159-4580_159-4579del	ENSP00000480470.1:n.159-4580_159-4579del
ENST00000619009.5:c.215+36_215+37del	ENSP00000482293.1:n.215+36_215+37del
ENST00000650978.1:c.57+36_57+37del
ENST00000260947.8:c.215+36_215+37del	ENSP00000260947.4:n.215+36_215+37del
ENST00000421162.1:c.215+36_215+37del	ENSP00000392245.1:n.215+36_215+37del
ENST00000455743.5:c.215+36_215+37del	ENSP00000412186.1:n.215+36_215+37del
ENST00000471787.1:n.259+12387_259+12388del
ENST00000479904.1:n.342_343del
ENST00000613192.1:c.73+12387_73+12388del	ENSP00000483275.1:n.73+12387_73+12388del
ENST00000613374.4:c.158+12387_158+12388del	ENSP00000484464.1:n.158+12387_158+12388del
ENST00000613706.4:c.215+36_215+37del	ENSP00000484976.1:n.215+36_215+37del
ENST00000617164.4:c.159-4580_159-4579del	ENSP00000480470.1:n.159-4580_159-4579del
ENST00000619009.4:c.215+36_215+37del	ENSP00000482293.1:n.215+36_215+37del
ENST00000620057.4:c.215+36_215+37del	ENSP00000481988.1:n.215+36_215+37del
NM_000465.3:c.215+36_215+37del	NP_000456.2:n.215+36_215+37del
NM_001282543.1:c.159-4580_159-4579del	NP_001269472.1:n.159-4580_159-4579del
NM_001282545.1:c.215+36_215+37del	NP_001269474.1:n.215+36_215+37del
NM_001282548.1:c.158+12387_158+12388del	NP_001269477.1:n.158+12387_158+12388del
NM_001282549.1:c.215+36_215+37del	NP_001269478.1:n.215+36_215+37del
NR_104212.1:n.357+36_357+37del
NR_104215.1:n.300+12387_300+12388del
NR_104216.1:n.357+36_357+37del
XM_011511567.1:c.161+36_161+37del	XP_011509869.1:n.161+36_161+37del
XM_011511568.1:c.215+36_215+37del	XP_011509870.1:n.215+36_215+37del
XM_017004613.1:c.215+36_215+37del	XP_016860102.1:n.215+36_215+37del
XM_017004614.1:c.215+36_215+37del	XP_016860103.1:n.215+36_215+37del
XR_002959322.1:n.306+36_306+37del
NM_000465.4:c.215+36_215+37del MANE Select	NP_000456.2:n.215+36_215+37del
NM_001282543.2:c.159-4580_159-4579del	NP_001269472.1:n.159-4580_159-4579del
NM_001282545.2:c.215+36_215+37del	NP_001269474.1:n.215+36_215+37del
NM_001282548.2:c.158+12387_158+12388del	NP_001269477.1:n.158+12387_158+12388del
NM_001282549.2:c.215+36_215+37del	NP_001269478.1:n.215+36_215+37del
NR_104212.2:n.329+36_329+37del
NR_104215.2:n.272+12387_272+12388del
NR_104216.2:n.329+36_329+37del