Canonical Allele Identifier: CA64802371

Gene: BARD1

Linked Data

• ClinVar Variation Id: 482815
• ClinVar RCV Id: RCV000569875 ; RCV000812779 ; RCV001030608 ; RCV001775888 ; RCV002265804
• dbSNP Id: rs927014703
• gnomAD v4: 2-214745142-GAAC-G
• MyVariant Identifiers: chr2:g.215609867_215609869del (hg19) ; chr2:g.214745143_214745145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745150_214745152del , CM000664.2:g.214745150_214745152del	GRCh38
NC_000002.11:g.215609874_215609876del , CM000664.1:g.215609874_215609876del	GRCh37
NC_000002.10:g.215318119_215318121del	NCBI36
NG_012047.2:g.69560_69562del
NG_012047.3:g.69567_69569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1825_1827del MANE Select	ENSP00000260947.4:p.Val609del
ENST00000421162.2:c.472_474del	ENSP00000392245.2:p.Val158del
ENST00000613192.2:c.159-14637_159-14635del	ENSP00000483275.2:n.159-14637_159-14635del
ENST00000613374.5:c.415_417del	ENSP00000484464.1:p.Val139del
ENST00000613706.5:c.1417_1419del	ENSP00000484976.2:p.Val473del
ENST00000617164.5:c.1768_1770del	ENSP00000480470.1:p.Val590del
ENST00000619009.5:c.365-14637_365-14635del	ENSP00000482293.1:n.365-14637_365-14635del
ENST00000650978.1:c.3200_3202del
ENST00000260947.8:c.1825_1827del	ENSP00000260947.4:p.Val609del
ENST00000421162.1:c.472_474del	ENSP00000392245.1:p.Val158del
ENST00000455743.5:c.*1445_*1447del	ENSP00000412186.1:n.*1445_*1447del
ENST00000613192.1:c.74-14637_74-14635del	ENSP00000483275.1:n.74-14637_74-14635del
ENST00000613374.4:c.415_417del	ENSP00000484464.1:p.Val139del
ENST00000613706.4:c.472_474del	ENSP00000484976.1:p.Val158del
ENST00000617164.4:c.1768_1770del	ENSP00000480470.1:p.Val590del
ENST00000619009.4:c.365-14637_365-14635del	ENSP00000482293.1:n.365-14637_365-14635del
ENST00000620057.4:c.*491_*493del	ENSP00000481988.1:n.*491_*493del
NM_000465.3:c.1825_1827del	NP_000456.2:p.Val609del
NM_001282543.1:c.1768_1770del	NP_001269472.1:p.Val590del
NM_001282545.1:c.472_474del	NP_001269474.1:p.Val158del
NM_001282548.1:c.415_417del	NP_001269477.1:p.Val139del
NM_001282549.1:c.365-14637_365-14635del	NP_001269478.1:n.365-14637_365-14635del
NR_104212.1:n.1818_1820del
NR_104215.1:n.1761_1763del
NR_104216.1:n.1017_1019del
XM_011511567.1:c.1771_1773del	XP_011509869.1:p.Val591del
XM_011511568.1:c.1825_1827del	XP_011509870.1:p.Val609del
XM_017004613.1:c.1924_1926del	XP_016860102.1:p.Val642del
XM_017004614.1:c.1924_1926del	XP_016860103.1:p.Val642del
XR_002959322.1:n.2015_2017del
NM_000465.4:c.1825_1827del MANE Select	NP_000456.2:p.Val609del
NM_001282543.2:c.1768_1770del	NP_001269472.1:p.Val590del
NM_001282545.2:c.472_474del	NP_001269474.1:p.Val158del
NM_001282548.2:c.415_417del	NP_001269477.1:p.Val139del
NM_001282549.2:c.365-14637_365-14635del	NP_001269478.1:n.365-14637_365-14635del
NR_104212.2:n.1790_1792del
NR_104215.2:n.1733_1735del
NR_104216.2:n.989_991del