Canonical Allele Identifier: CA539534892

Gene: BARD1

Linked Data

• dbSNP Id: rs1692182945
• gnomAD v2: 2-215593282-A-ATTTTTT
• gnomAD v3: 2-214728558-A-ATTTTTT
• gnomAD v4: 2-214728558-A-ATTTTTT
• MyVariant Identifiers: chr2:g.215593282_215593283insTTTTTT (hg19) ; chr2:g.214728558_214728559insTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728558_214728559insTTTTTT , CM000664.2:g.214728558_214728559insTTTTTT	GRCh38
NC_000002.11:g.215593282_215593283insTTTTTT , CM000664.1:g.215593282_215593283insTTTTTT	GRCh37
NC_000002.10:g.215301527_215301528insTTTTTT	NCBI36
NG_012047.2:g.86146_86147insAAAAAA
NG_012047.3:g.86153_86154insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.*117_*118insAAAAAA MANE Select	ENSP00000260947.4:n.*117_*118insAAAAAA
ENST00000617164.5:c.*117_*118insAAAAAA	ENSP00000480470.1:n.*117_*118insAAAAAA
ENST00000619009.5:c.*117_*118insAAAAAA	ENSP00000482293.1:n.*117_*118insAAAAAA
ENST00000260947.8:c.*117_*118insAAAAAA	ENSP00000260947.4:n.*117_*118insAAAAAA
ENST00000432456.5:c.594_595insAAAAAA
ENST00000471590.5:n.786_787insAAAAAA
ENST00000613374.4:c.*117_*118insAAAAAA	ENSP00000484464.1:n.*117_*118insAAAAAA
ENST00000613706.4:c.*117_*118insAAAAAA	ENSP00000484976.1:n.*117_*118insAAAAAA
ENST00000617164.4:c.*117_*118insAAAAAA	ENSP00000480470.1:n.*117_*118insAAAAAA
ENST00000619009.4:c.*117_*118insAAAAAA	ENSP00000482293.1:n.*117_*118insAAAAAA
NM_000465.3:c.*117_*118insAAAAAA	NP_000456.2:n.*117_*118insAAAAAA
NM_001282543.1:c.*117_*118insAAAAAA	NP_001269472.1:n.*117_*118insAAAAAA
NM_001282545.1:c.*117_*118insAAAAAA	NP_001269474.1:n.*117_*118insAAAAAA
NM_001282548.1:c.*117_*118insAAAAAA	NP_001269477.1:n.*117_*118insAAAAAA
NM_001282549.1:c.*117_*118insAAAAAA	NP_001269478.1:n.*117_*118insAAAAAA
NR_104212.1:n.2444_2445insAAAAAA
NR_104215.1:n.2387_2388insAAAAAA
NR_104216.1:n.1643_1644insAAAAAA
XM_011511567.1:c.*117_*118insAAAAAA	XP_011509869.1:n.*117_*118insAAAAAA
XM_017004613.1:c.*117_*118insAAAAAA	XP_016860102.1:n.*117_*118insAAAAAA
XR_002959322.1:n.2817_2818insAAAAAA
NM_000465.4:c.*117_*118insAAAAAA MANE Select	NP_000456.2:n.*117_*118insAAAAAA
NM_001282543.2:c.*117_*118insAAAAAA	NP_001269472.1:n.*117_*118insAAAAAA
NM_001282545.2:c.*117_*118insAAAAAA	NP_001269474.1:n.*117_*118insAAAAAA
NM_001282548.2:c.*117_*118insAAAAAA	NP_001269477.1:n.*117_*118insAAAAAA
NM_001282549.2:c.*117_*118insAAAAAA	NP_001269478.1:n.*117_*118insAAAAAA
NR_104212.2:n.2416_2417insAAAAAA
NR_104215.2:n.2359_2360insAAAAAA
NR_104216.2:n.1615_1616insAAAAAA