Canonical Allele Identifier: CA163636

Gene: BARD1

Linked Data

• ClinVar Variation Id: 419844
• ClinVar RCV Id: RCV000129003 ; RCV000480746 ; RCV000526802
• dbSNP Id: rs587781297
• gnomAD v2: 2-215674249-GCGGATCCTCGGCTGC-G
• gnomAD v3: 2-214809525-GCGGATCCTCGGCTGC-G
• gnomAD v4: 2-214809525-GCGGATCCTCGGCTGC-G
• MyVariant Identifiers: chr2:g.215674253_215674267del (hg19) ; chr2:g.215674250_215674264del (hg19) ; chr2:g.214809529_214809543del (hg38) ; chr2:g.214809526_214809540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809529_214809543del , CM000664.2:g.214809529_214809543del	GRCh38
NC_000002.11:g.215674253_215674267del , CM000664.1:g.215674253_215674267del	GRCh37
NC_000002.10:g.215382498_215382512del	NCBI36
NG_012047.2:g.5165_5179del
NG_012047.3:g.5172_5186del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.30_44del MANE Select	ENSP00000260947.4:p.Gln11_Arg15del
ENST00000421162.2:c.30_44del	ENSP00000392245.2:p.Gln11_Arg15del
ENST00000613192.2:c.30_44del	ENSP00000483275.2:p.Gln11_Arg15del
ENST00000613374.5:c.30_44del	ENSP00000484464.1:p.Gln11_Arg15del
ENST00000613706.5:c.30_44del	ENSP00000484976.2:p.Gln11_Arg15del
ENST00000617164.5:c.30_44del	ENSP00000480470.1:p.Gln11_Arg15del
ENST00000619009.5:c.30_44del	ENSP00000482293.1:p.Gln11_Arg15del
ENST00000260947.8:c.30_44del	ENSP00000260947.4:p.Gln11_Arg15del
ENST00000421162.1:c.30_44del	ENSP00000392245.1:p.Gln11_Arg15del
ENST00000455743.5:c.30_44del	ENSP00000412186.1:p.Gln11_Arg15del
ENST00000471787.1:n.131_145del
ENST00000479904.1:n.121_135del
ENST00000613192.1:c.-56_-42del	ENSP00000483275.1:n.-56_-42del
ENST00000613374.4:c.30_44del	ENSP00000484464.1:p.Gln11_Arg15del
ENST00000613706.4:c.30_44del	ENSP00000484976.1:p.Gln11_Arg15del
ENST00000617164.4:c.30_44del	ENSP00000480470.1:p.Gln11_Arg15del
ENST00000619009.4:c.30_44del	ENSP00000482293.1:p.Gln11_Arg15del
ENST00000620057.4:c.30_44del	ENSP00000481988.1:p.Gln11_Arg15del
NM_000465.3:c.30_44del	NP_000456.2:p.Gln11_Arg15del
NM_001282543.1:c.30_44del	NP_001269472.1:p.Gln11_Arg15del
NM_001282545.1:c.30_44del	NP_001269474.1:p.Gln11_Arg15del
NM_001282548.1:c.30_44del	NP_001269477.1:p.Gln11_Arg15del
NM_001282549.1:c.30_44del	NP_001269478.1:p.Gln11_Arg15del
NR_104212.1:n.172_186del
NR_104215.1:n.172_186del
NR_104216.1:n.172_186del
XM_011511568.1:c.30_44del	XP_011509870.1:p.Gln11_Arg15del
XM_017004613.1:c.30_44del	XP_016860102.1:p.Gln11_Arg15del
XM_017004614.1:c.30_44del	XP_016860103.1:p.Gln11_Arg15del
XR_002959322.1:n.121_135del
NM_000465.4:c.30_44del MANE Select	NP_000456.2:p.Gln11_Arg15del
NM_001282543.2:c.30_44del	NP_001269472.1:p.Gln11_Arg15del
NM_001282545.2:c.30_44del	NP_001269474.1:p.Gln11_Arg15del
NM_001282548.2:c.30_44del	NP_001269477.1:p.Gln11_Arg15del
NM_001282549.2:c.30_44del	NP_001269478.1:p.Gln11_Arg15del
NR_104212.2:n.144_158del
NR_104215.2:n.144_158del
NR_104216.2:n.144_158del