Canonical Allele Identifier: CA658796163

Gene: BARD1

Linked Data

• ClinVar Variation Id: 530030
• ClinVar RCV Id: RCV000635606
• dbSNP Id: rs1553614963
• MyVariant Identifiers: chr2:g.215609861dup (hg19) ; chr2:g.214745137dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745137dup , CM000664.2:g.214745137dup	GRCh38
NC_000002.11:g.215609861dup , CM000664.1:g.215609861dup	GRCh37
NC_000002.10:g.215318106dup	NCBI36
NG_012047.2:g.69568dup
NG_012047.3:g.69575dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1833dup MANE Select	ENSP00000260947.4:p.Asp612Ter
ENST00000421162.2:c.480dup	ENSP00000392245.2:p.Asp161Ter
ENST00000613192.2:c.159-14629dup	ENSP00000483275.2:n.159-14629dup
ENST00000613374.5:c.423dup	ENSP00000484464.1:p.Asp142Ter
ENST00000613706.5:c.1425dup	ENSP00000484976.2:p.Asp476Ter
ENST00000617164.5:c.1776dup	ENSP00000480470.1:p.Asp593Ter
ENST00000619009.5:c.365-14629dup	ENSP00000482293.1:n.365-14629dup
ENST00000650978.1:c.3208dup
ENST00000260947.8:c.1833dup	ENSP00000260947.4:p.Asp612Ter
ENST00000421162.1:c.480dup	ENSP00000392245.1:p.Asp161Ter
ENST00000455743.5:c.*1453dup	ENSP00000412186.1:n.*1453dup
ENST00000613192.1:c.74-14629dup	ENSP00000483275.1:n.74-14629dup
ENST00000613374.4:c.423dup	ENSP00000484464.1:p.Asp142Ter
ENST00000613706.4:c.480dup	ENSP00000484976.1:p.Asp161Ter
ENST00000617164.4:c.1776dup	ENSP00000480470.1:p.Asp593Ter
ENST00000619009.4:c.365-14629dup	ENSP00000482293.1:n.365-14629dup
ENST00000620057.4:c.*499dup	ENSP00000481988.1:n.*499dup
NM_000465.3:c.1833dup	NP_000456.2:p.Asp612Ter
NM_001282543.1:c.1776dup	NP_001269472.1:p.Asp593Ter
NM_001282545.1:c.480dup	NP_001269474.1:p.Asp161Ter
NM_001282548.1:c.423dup	NP_001269477.1:p.Asp142Ter
NM_001282549.1:c.365-14629dup	NP_001269478.1:n.365-14629dup
NR_104212.1:n.1826dup
NR_104215.1:n.1769dup
NR_104216.1:n.1025dup
XM_011511567.1:c.1779dup	XP_011509869.1:p.Asp594Ter
XM_011511568.1:c.1833dup	XP_011509870.1:p.Asp612Ter
XM_017004613.1:c.1932dup	XP_016860102.1:p.Asp645Ter
XM_017004614.1:c.1932dup	XP_016860103.1:p.Asp645Ter
XR_002959322.1:n.2023dup
NM_000465.4:c.1833dup MANE Select	NP_000456.2:p.Asp612Ter
NM_001282543.2:c.1776dup	NP_001269472.1:p.Asp593Ter
NM_001282545.2:c.480dup	NP_001269474.1:p.Asp161Ter
NM_001282548.2:c.423dup	NP_001269477.1:p.Asp142Ter
NM_001282549.2:c.365-14629dup	NP_001269478.1:n.365-14629dup
NR_104212.2:n.1798dup
NR_104215.2:n.1741dup
NR_104216.2:n.997dup