Canonical Allele Identifier: CA764572483

Gene: BARD1

Linked Data

• dbSNP Id: rs1170453155
• gnomAD v3: 2-214752336-ATTGT-A
• gnomAD v4: 2-214752336-ATTGT-A
• MyVariant Identifiers: chr2:g.215617061_215617064del (hg19) ; chr2:g.214752337_214752340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752340_214752343del , CM000664.2:g.214752340_214752343del	GRCh38
NC_000002.11:g.215617064_215617067del , CM000664.1:g.215617064_215617067del	GRCh37
NC_000002.10:g.215325309_215325312del	NCBI36
NG_012047.2:g.62365_62368del
NG_012047.3:g.62372_62375del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1677+107_1677+110del MANE Select	ENSP00000260947.4:n.1677+107_1677+110del
ENST00000421162.2:c.324+107_324+110del	ENSP00000392245.2:n.324+107_324+110del
ENST00000613192.2:c.159-21832_159-21829del	ENSP00000483275.2:n.159-21832_159-21829del
ENST00000613374.5:c.267+107_267+110del	ENSP00000484464.1:n.267+107_267+110del
ENST00000613706.5:c.1269+107_1269+110del	ENSP00000484976.2:n.1269+107_1269+110del
ENST00000617164.5:c.1620+107_1620+110del	ENSP00000480470.1:n.1620+107_1620+110del
ENST00000619009.5:c.365-21832_365-21829del	ENSP00000482293.1:n.365-21832_365-21829del
ENST00000650978.1:c.3052+107_3052+110del
ENST00000260947.8:c.1677+107_1677+110del	ENSP00000260947.4:n.1677+107_1677+110del
ENST00000421162.1:c.324+107_324+110del	ENSP00000392245.1:n.324+107_324+110del
ENST00000455743.5:c.*1297+107_*1297+110del	ENSP00000412186.1:n.*1297+107_*1297+110del
ENST00000465841.1:n.32+107_32+110del
ENST00000613192.1:c.74-21832_74-21829del	ENSP00000483275.1:n.74-21832_74-21829del
ENST00000613374.4:c.267+107_267+110del	ENSP00000484464.1:n.267+107_267+110del
ENST00000613706.4:c.324+107_324+110del	ENSP00000484976.1:n.324+107_324+110del
ENST00000617164.4:c.1620+107_1620+110del	ENSP00000480470.1:n.1620+107_1620+110del
ENST00000619009.4:c.365-21832_365-21829del	ENSP00000482293.1:n.365-21832_365-21829del
ENST00000620057.4:c.*343+107_*343+110del	ENSP00000481988.1:n.*343+107_*343+110del
NM_000465.3:c.1677+107_1677+110del	NP_000456.2:n.1677+107_1677+110del
NM_001282543.1:c.1620+107_1620+110del	NP_001269472.1:n.1620+107_1620+110del
NM_001282545.1:c.324+107_324+110del	NP_001269474.1:n.324+107_324+110del
NM_001282548.1:c.267+107_267+110del	NP_001269477.1:n.267+107_267+110del
NM_001282549.1:c.365-21832_365-21829del	NP_001269478.1:n.365-21832_365-21829del
NR_104212.1:n.1670+107_1670+110del
NR_104215.1:n.1613+107_1613+110del
NR_104216.1:n.869+107_869+110del
XM_011511567.1:c.1623+107_1623+110del	XP_011509869.1:n.1623+107_1623+110del
XM_011511568.1:c.1677+107_1677+110del	XP_011509870.1:n.1677+107_1677+110del
XM_017004613.1:c.1776+107_1776+110del	XP_016860102.1:n.1776+107_1776+110del
XM_017004614.1:c.1776+107_1776+110del	XP_016860103.1:n.1776+107_1776+110del
XR_002959322.1:n.1867+107_1867+110del
NM_000465.4:c.1677+107_1677+110del MANE Select	NP_000456.2:n.1677+107_1677+110del
NM_001282543.2:c.1620+107_1620+110del	NP_001269472.1:n.1620+107_1620+110del
NM_001282545.2:c.324+107_324+110del	NP_001269474.1:n.324+107_324+110del
NM_001282548.2:c.267+107_267+110del	NP_001269477.1:n.267+107_267+110del
NM_001282549.2:c.365-21832_365-21829del	NP_001269478.1:n.365-21832_365-21829del
NR_104212.2:n.1642+107_1642+110del
NR_104215.2:n.1585+107_1585+110del
NR_104216.2:n.841+107_841+110del