Canonical Allele Identifier: CA658796166

Gene: BARD1

Linked Data

• ClinVar Variation Id: 530138
• ClinVar RCV Id: RCV000635810
• dbSNP Id: rs1553616339
• MyVariant Identifiers: chr2:g.215617148_215617172del (hg19) ; chr2:g.214752424_214752448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752425_214752449del , CM000664.2:g.214752425_214752449del	GRCh38
NC_000002.11:g.215617149_215617173del , CM000664.1:g.215617149_215617173del	GRCh37
NC_000002.10:g.215325394_215325418del	NCBI36
NG_012047.2:g.62257_62281del
NG_012047.3:g.62264_62288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1676_1677+23del
ENST00000421162.2:c.323_324+23del
ENST00000613192.2:c.159-21940_159-21916del	ENSP00000483275.2:n.159-21940_159-21916de...
ENST00000613374.5:c.266_267+23del
ENST00000613706.5:c.1268_1269+23del
ENST00000617164.5:c.1619_1620+23del
ENST00000619009.5:c.365-21940_365-21916del	ENSP00000482293.1:n.365-21940_365-21916de...
ENST00000650978.1:c.3051_3052+23del
ENST00000260947.8:c.1676_1677+23del
ENST00000421162.1:c.323_324+23del
ENST00000455743.5:c.*1296_*1297+23del
ENST00000465841.1:n.31_32+23del
ENST00000613192.1:c.74-21940_74-21916del	ENSP00000483275.1:n.74-21940_74-21916del
ENST00000613374.4:c.266_267+23del
ENST00000613706.4:c.323_324+23del
ENST00000617164.4:c.1619_1620+23del
ENST00000619009.4:c.365-21940_365-21916del	ENSP00000482293.1:n.365-21940_365-21916de...
ENST00000620057.4:c.*342_*343+23del
NM_000465.3:c.1676_1677+23del
NM_001282543.1:c.1619_1620+23del
NM_001282545.1:c.323_324+23del
NM_001282548.1:c.266_267+23del
NM_001282549.1:c.365-21940_365-21916del	NP_001269478.1:n.365-21940_365-21916del
NR_104212.1:n.1669_1670+23del
NR_104215.1:n.1612_1613+23del
NR_104216.1:n.868_869+23del
XM_011511567.1:c.1622_1623+23del
XM_011511568.1:c.1676_1677+23del
XM_017004613.1:c.1775_1776+23del
XM_017004614.1:c.1775_1776+23del
XR_002959322.1:n.1866_1867+23del
NM_000465.4:c.1676_1677+23del
NM_001282543.2:c.1619_1620+23del
NM_001282545.2:c.323_324+23del
NM_001282548.2:c.266_267+23del
NM_001282549.2:c.365-21940_365-21916del	NP_001269478.1:n.365-21940_365-21916del
NR_104212.2:n.1641_1642+23del
NR_104215.2:n.1584_1585+23del
NR_104216.2:n.840_841+23del