Canonical Allele Identifier: CA1327045370

Gene: BARD1

Linked Data

• dbSNP Id: rs1692181478
• gnomAD v4: 2-214728539-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728539_214728540insA , CM000664.2:g.214728539_214728540insA	GRCh38
NC_000002.11:g.215593263_215593264insA , CM000664.1:g.215593263_215593264insA	GRCh37
NC_000002.10:g.215301508_215301509insA	NCBI36
NG_012047.2:g.86165_86166insT
NG_012047.3:g.86172_86173insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*136_*137insT MANE Select	ENSP00000260947.4:n.*136_*137insT
ENST00000260947.8:c.*136_*137insT	ENSP00000260947.4:n.*136_*137insT
ENST00000432456.5:c.613_614insT
ENST00000471590.5:n.805_806insT
ENST00000613374.4:c.*136_*137insT	ENSP00000484464.1:n.*136_*137insT
ENST00000613706.4:c.*136_*137insT	ENSP00000484976.1:n.*136_*137insT
ENST00000617164.4:c.*136_*137insT	ENSP00000480470.1:n.*136_*137insT
ENST00000619009.4:c.*136_*137insT	ENSP00000482293.1:n.*136_*137insT
NM_000465.3:c.*136_*137insT	NP_000456.2:n.*136_*137insT
NM_001282543.1:c.*136_*137insT	NP_001269472.1:n.*136_*137insT
NM_001282545.1:c.*136_*137insT	NP_001269474.1:n.*136_*137insT
NM_001282548.1:c.*136_*137insT	NP_001269477.1:n.*136_*137insT
NM_001282549.1:c.*136_*137insT	NP_001269478.1:n.*136_*137insT
NR_104212.1:n.2463_2464insT
NR_104215.1:n.2406_2407insT
NR_104216.1:n.1662_1663insT
XM_011511567.1:c.*136_*137insT	XP_011509869.1:n.*136_*137insT
XM_017004613.1:c.*136_*137insT	XP_016860102.1:n.*136_*137insT
XR_002959322.1:n.2836_2837insT
NM_000465.4:c.*136_*137insT MANE Select	NP_000456.2:n.*136_*137insT
NM_001282543.2:c.*136_*137insT	NP_001269472.1:n.*136_*137insT
NM_001282545.2:c.*136_*137insT	NP_001269474.1:n.*136_*137insT
NM_001282548.2:c.*136_*137insT	NP_001269477.1:n.*136_*137insT
NM_001282549.2:c.*136_*137insT	NP_001269478.1:n.*136_*137insT
NR_104212.2:n.2435_2436insT
NR_104215.2:n.2378_2379insT
NR_104216.2:n.1634_1635insT