Canonical Allele Identifier: CA764573056

Gene: BARD1

Linked Data

• dbSNP Id: rs1355371644
• gnomAD v3: 2-214752787-T-TC
• gnomAD v4: 2-214752787-T-TC
• MyVariant Identifiers: chr2:g.215617511_215617512insC (hg19) ; chr2:g.214752787_214752788insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752788dup , CM000664.2:g.214752788dup	GRCh38
NC_000002.11:g.215617512dup , CM000664.1:g.215617512dup	GRCh37
NC_000002.10:g.215325757dup	NCBI36
NG_012047.2:g.61917dup
NG_012047.3:g.61924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1569-233dup MANE Select	ENSP00000260947.4:n.1569-233dup
ENST00000421162.2:c.216-233dup	ENSP00000392245.2:n.216-233dup
ENST00000613192.2:c.159-22280dup	ENSP00000483275.2:n.159-22280dup
ENST00000613374.5:c.159-233dup	ENSP00000484464.1:n.159-233dup
ENST00000613706.5:c.1161-233dup	ENSP00000484976.2:n.1161-233dup
ENST00000617164.5:c.1512-233dup	ENSP00000480470.1:n.1512-233dup
ENST00000619009.5:c.365-22280dup	ENSP00000482293.1:n.365-22280dup
ENST00000650978.1:c.2944-233dup
ENST00000260947.8:c.1569-233dup	ENSP00000260947.4:n.1569-233dup
ENST00000421162.1:c.216-233dup	ENSP00000392245.1:n.216-233dup
ENST00000455743.5:c.*1189-233dup	ENSP00000412186.1:n.*1189-233dup
ENST00000613192.1:c.74-22280dup	ENSP00000483275.1:n.74-22280dup
ENST00000613374.4:c.159-233dup	ENSP00000484464.1:n.159-233dup
ENST00000613706.4:c.216-233dup	ENSP00000484976.1:n.216-233dup
ENST00000617164.4:c.1512-233dup	ENSP00000480470.1:n.1512-233dup
ENST00000619009.4:c.365-22280dup	ENSP00000482293.1:n.365-22280dup
ENST00000620057.4:c.*235-233dup	ENSP00000481988.1:n.*235-233dup
NM_000465.3:c.1569-233dup	NP_000456.2:n.1569-233dup
NM_001282543.1:c.1512-233dup	NP_001269472.1:n.1512-233dup
NM_001282545.1:c.216-233dup	NP_001269474.1:n.216-233dup
NM_001282548.1:c.159-233dup	NP_001269477.1:n.159-233dup
NM_001282549.1:c.365-22280dup	NP_001269478.1:n.365-22280dup
NR_104212.1:n.1562-233dup
NR_104215.1:n.1505-233dup
NR_104216.1:n.761-233dup
XM_011511567.1:c.1515-233dup	XP_011509869.1:n.1515-233dup
XM_011511568.1:c.1569-233dup	XP_011509870.1:n.1569-233dup
XM_017004613.1:c.1668-233dup	XP_016860102.1:n.1668-233dup
XM_017004614.1:c.1668-233dup	XP_016860103.1:n.1668-233dup
XR_002959322.1:n.1759-233dup
NM_000465.4:c.1569-233dup MANE Select	NP_000456.2:n.1569-233dup
NM_001282543.2:c.1512-233dup	NP_001269472.1:n.1512-233dup
NM_001282545.2:c.216-233dup	NP_001269474.1:n.216-233dup
NM_001282548.2:c.159-233dup	NP_001269477.1:n.159-233dup
NM_001282549.2:c.365-22280dup	NP_001269478.1:n.365-22280dup
NR_104212.2:n.1534-233dup
NR_104215.2:n.1477-233dup
NR_104216.2:n.733-233dup