Canonical Allele Identifier: CA2662969731

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728545-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728546_214728547insAT , CM000664.2:g.214728546_214728547insAT	GRCh38
NC_000002.11:g.215593270_215593271insAT , CM000664.1:g.215593270_215593271insAT	GRCh37
NC_000002.10:g.215301515_215301516insAT	NCBI36
NG_012047.2:g.86159_86160insTA
NG_012047.3:g.86166_86167insTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*130_*131insTA MANE Select	ENSP00000260947.4:n.*130_*131insTA
ENST00000260947.8:c.*130_*131insTA	ENSP00000260947.4:n.*130_*131insTA
ENST00000432456.5:c.607_608insTA
ENST00000471590.5:n.799_800insTA
ENST00000613374.4:c.*130_*131insTA	ENSP00000484464.1:n.*130_*131insTA
ENST00000613706.4:c.*130_*131insTA	ENSP00000484976.1:n.*130_*131insTA
ENST00000617164.4:c.*130_*131insTA	ENSP00000480470.1:n.*130_*131insTA
ENST00000619009.4:c.*130_*131insTA	ENSP00000482293.1:n.*130_*131insTA
NM_000465.3:c.*130_*131insTA	NP_000456.2:n.*130_*131insTA
NM_001282543.1:c.*130_*131insTA	NP_001269472.1:n.*130_*131insTA
NM_001282545.1:c.*130_*131insTA	NP_001269474.1:n.*130_*131insTA
NM_001282548.1:c.*130_*131insTA	NP_001269477.1:n.*130_*131insTA
NM_001282549.1:c.*130_*131insTA	NP_001269478.1:n.*130_*131insTA
NR_104212.1:n.2457_2458insTA
NR_104215.1:n.2400_2401insTA
NR_104216.1:n.1656_1657insTA
XM_011511567.1:c.*130_*131insTA	XP_011509869.1:n.*130_*131insTA
XM_017004613.1:c.*130_*131insTA	XP_016860102.1:n.*130_*131insTA
XR_002959322.1:n.2830_2831insTA
NM_000465.4:c.*130_*131insTA MANE Select	NP_000456.2:n.*130_*131insTA
NM_001282543.2:c.*130_*131insTA	NP_001269472.1:n.*130_*131insTA
NM_001282545.2:c.*130_*131insTA	NP_001269474.1:n.*130_*131insTA
NM_001282548.2:c.*130_*131insTA	NP_001269477.1:n.*130_*131insTA
NM_001282549.2:c.*130_*131insTA	NP_001269478.1:n.*130_*131insTA
NR_104212.2:n.2429_2430insTA
NR_104215.2:n.2372_2373insTA
NR_104216.2:n.1628_1629insTA