Canonical Allele Identifier: CA1042200947

Gene: BARD1

Linked Data

• gnomAD v3: 2-214728554-A-ATTTTTTTTTT
• gnomAD v4: 2-214728554-A-ATTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728556_214728557insTTTTTTTTTT , CM000664.2:g.214728556_214728557insTTTTTTTTTT	GRCh38
NC_000002.11:g.215593280_215593281insTTTTTTTTTT , CM000664.1:g.215593280_215593281insTTTTTTTTTT	GRCh37
NC_000002.10:g.215301525_215301526insTTTTTTTTTT	NCBI36
NG_012047.2:g.86150_86151insAAAAAAAAAA
NG_012047.3:g.86157_86158insAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*121_*122insAAAAAAAAAA MANE Select	ENSP00000260947.4:n.*121_*122insAAAAAAAAA...
ENST00000617164.5:c.*121_*122insAAAAAAAAAA	ENSP00000480470.1:n.*121_*122insAAAAAAAAA...
ENST00000619009.5:c.*121_*122insAAAAAAAAAA	ENSP00000482293.1:n.*121_*122insAAAAAAAAA...
ENST00000260947.8:c.*121_*122insAAAAAAAAAA	ENSP00000260947.4:n.*121_*122insAAAAAAAAA...
ENST00000432456.5:c.598_599insAAAAAAAAAA
ENST00000471590.5:n.790_791insAAAAAAAAAA
ENST00000613374.4:c.*121_*122insAAAAAAAAAA	ENSP00000484464.1:n.*121_*122insAAAAAAAAA...
ENST00000613706.4:c.*121_*122insAAAAAAAAAA	ENSP00000484976.1:n.*121_*122insAAAAAAAAA...
ENST00000617164.4:c.*121_*122insAAAAAAAAAA	ENSP00000480470.1:n.*121_*122insAAAAAAAAA...
ENST00000619009.4:c.*121_*122insAAAAAAAAAA	ENSP00000482293.1:n.*121_*122insAAAAAAAAA...
NM_000465.3:c.*121_*122insAAAAAAAAAA	NP_000456.2:n.*121_*122insAAAAAAAAAA
NM_001282543.1:c.*121_*122insAAAAAAAAAA	NP_001269472.1:n.*121_*122insAAAAAAAAAA
NM_001282545.1:c.*121_*122insAAAAAAAAAA	NP_001269474.1:n.*121_*122insAAAAAAAAAA
NM_001282548.1:c.*121_*122insAAAAAAAAAA	NP_001269477.1:n.*121_*122insAAAAAAAAAA
NM_001282549.1:c.*121_*122insAAAAAAAAAA	NP_001269478.1:n.*121_*122insAAAAAAAAAA
NR_104212.1:n.2448_2449insAAAAAAAAAA
NR_104215.1:n.2391_2392insAAAAAAAAAA
NR_104216.1:n.1647_1648insAAAAAAAAAA
XM_011511567.1:c.*121_*122insAAAAAAAAAA	XP_011509869.1:n.*121_*122insAAAAAAAAAA
XM_017004613.1:c.*121_*122insAAAAAAAAAA	XP_016860102.1:n.*121_*122insAAAAAAAAAA
XR_002959322.1:n.2821_2822insAAAAAAAAAA
NM_000465.4:c.*121_*122insAAAAAAAAAA MANE Select	NP_000456.2:n.*121_*122insAAAAAAAAAA
NM_001282543.2:c.*121_*122insAAAAAAAAAA	NP_001269472.1:n.*121_*122insAAAAAAAAAA
NM_001282545.2:c.*121_*122insAAAAAAAAAA	NP_001269474.1:n.*121_*122insAAAAAAAAAA
NM_001282548.2:c.*121_*122insAAAAAAAAAA	NP_001269477.1:n.*121_*122insAAAAAAAAAA
NM_001282549.2:c.*121_*122insAAAAAAAAAA	NP_001269478.1:n.*121_*122insAAAAAAAAAA
NR_104212.2:n.2420_2421insAAAAAAAAAA
NR_104215.2:n.2363_2364insAAAAAAAAAA
NR_104216.2:n.1619_1620insAAAAAAAAAA