Canonical Allele Identifier: CA1042208240

Gene: BARD1

Linked Data

• dbSNP Id: rs1692994418
• gnomAD v3: 2-214744368-T-TA
• gnomAD v4: 2-214744368-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214744369dup , CM000664.2:g.214744369dup	GRCh38
NC_000002.11:g.215609093dup , CM000664.1:g.215609093dup	GRCh37
NC_000002.10:g.215317338dup	NCBI36
NG_012047.2:g.70336dup
NG_012047.3:g.70343dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1903+698dup MANE Select	ENSP00000260947.4:n.1903+698dup
ENST00000421162.2:c.550+698dup	ENSP00000392245.2:n.550+698dup
ENST00000613192.2:c.159-13861dup	ENSP00000483275.2:n.159-13861dup
ENST00000613374.5:c.493+698dup	ENSP00000484464.1:n.493+698dup
ENST00000613706.5:c.1495+698dup	ENSP00000484976.2:n.1495+698dup
ENST00000617164.5:c.1846+698dup	ENSP00000480470.1:n.1846+698dup
ENST00000619009.5:c.365-13861dup	ENSP00000482293.1:n.365-13861dup
ENST00000650978.1:c.3278+698dup
ENST00000260947.8:c.1903+698dup	ENSP00000260947.4:n.1903+698dup
ENST00000421162.1:c.550+698dup	ENSP00000392245.1:n.550+698dup
ENST00000455743.5:c.*1523+698dup	ENSP00000412186.1:n.*1523+698dup
ENST00000613192.1:c.74-13861dup	ENSP00000483275.1:n.74-13861dup
ENST00000613374.4:c.493+698dup	ENSP00000484464.1:n.493+698dup
ENST00000613706.4:c.550+698dup	ENSP00000484976.1:n.550+698dup
ENST00000617164.4:c.1846+698dup	ENSP00000480470.1:n.1846+698dup
ENST00000619009.4:c.365-13861dup	ENSP00000482293.1:n.365-13861dup
ENST00000620057.4:c.*569+698dup	ENSP00000481988.1:n.*569+698dup
NM_000465.3:c.1903+698dup	NP_000456.2:n.1903+698dup
NM_001282543.1:c.1846+698dup	NP_001269472.1:n.1846+698dup
NM_001282545.1:c.550+698dup	NP_001269474.1:n.550+698dup
NM_001282548.1:c.493+698dup	NP_001269477.1:n.493+698dup
NM_001282549.1:c.365-13861dup	NP_001269478.1:n.365-13861dup
NR_104212.1:n.1896+698dup
NR_104215.1:n.1839+698dup
NR_104216.1:n.1095+698dup
XM_011511567.1:c.1849+698dup	XP_011509869.1:n.1849+698dup
XM_011511568.1:c.1903+698dup	XP_011509870.1:n.1903+698dup
XM_017004613.1:c.2002+698dup	XP_016860102.1:n.2002+698dup
XM_017004614.1:c.2002+698dup	XP_016860103.1:n.2002+698dup
XR_002959322.1:n.2093+698dup
NM_000465.4:c.1903+698dup MANE Select	NP_000456.2:n.1903+698dup
NM_001282543.2:c.1846+698dup	NP_001269472.1:n.1846+698dup
NM_001282545.2:c.550+698dup	NP_001269474.1:n.550+698dup
NM_001282548.2:c.493+698dup	NP_001269477.1:n.493+698dup
NM_001282549.2:c.365-13861dup	NP_001269478.1:n.365-13861dup
NR_104212.2:n.1868+698dup
NR_104215.2:n.1811+698dup
NR_104216.2:n.1067+698dup