Canonical Allele Identifier: CA2662969434

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728449-A-ATCTTTGATACC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728449_214728450insTCTTTGATACC , CM000664.2:g.214728449_214728450insTCTTTGATACC	GRCh38
NC_000002.11:g.215593173_215593174insTCTTTGATACC , CM000664.1:g.215593173_215593174insTCTTTGATACC	GRCh37
NC_000002.10:g.215301418_215301419insTCTTTGATACC	NCBI36
NG_012047.2:g.86255_86256insGGTATCAAAGA
NG_012047.3:g.86262_86263insGGTATCAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.*226_*227insGGTATCAAAGA MANE Select	ENSP00000260947.4:n.*226_*227insGGTATCAAAGA
ENST00000260947.8:c.*226_*227insGGTATCAAAGA	ENSP00000260947.4:n.*226_*227insGGTATCAAAGA
ENST00000471590.5:n.895_896insGGTATCAAAGA
ENST00000613374.4:c.*226_*227insGGTATCAAAGA	ENSP00000484464.1:n.*226_*227insGGTATCAAAGA
ENST00000613706.4:c.*226_*227insGGTATCAAAGA	ENSP00000484976.1:n.*226_*227insGGTATCAAAGA
ENST00000617164.4:c.*226_*227insGGTATCAAAGA	ENSP00000480470.1:n.*226_*227insGGTATCAAAGA
ENST00000619009.4:c.*226_*227insGGTATCAAAGA	ENSP00000482293.1:n.*226_*227insGGTATCAAAGA
NM_000465.3:c.*226_*227insGGTATCAAAGA	NP_000456.2:n.*226_*227insGGTATCAAAGA
NM_001282543.1:c.*226_*227insGGTATCAAAGA	NP_001269472.1:n.*226_*227insGGTATCAAAGA
NM_001282545.1:c.*226_*227insGGTATCAAAGA	NP_001269474.1:n.*226_*227insGGTATCAAAGA
NM_001282548.1:c.*226_*227insGGTATCAAAGA	NP_001269477.1:n.*226_*227insGGTATCAAAGA
NM_001282549.1:c.*226_*227insGGTATCAAAGA	NP_001269478.1:n.*226_*227insGGTATCAAAGA
NR_104212.1:n.2553_2554insGGTATCAAAGA
NR_104215.1:n.2496_2497insGGTATCAAAGA
NR_104216.1:n.1752_1753insGGTATCAAAGA
XM_011511567.1:c.*226_*227insGGTATCAAAGA	XP_011509869.1:n.*226_*227insGGTATCAAAGA
XM_017004613.1:c.*226_*227insGGTATCAAAGA	XP_016860102.1:n.*226_*227insGGTATCAAAGA
NM_000465.4:c.*226_*227insGGTATCAAAGA MANE Select	NP_000456.2:n.*226_*227insGGTATCAAAGA
NM_001282543.2:c.*226_*227insGGTATCAAAGA	NP_001269472.1:n.*226_*227insGGTATCAAAGA
NM_001282545.2:c.*226_*227insGGTATCAAAGA	NP_001269474.1:n.*226_*227insGGTATCAAAGA
NM_001282548.2:c.*226_*227insGGTATCAAAGA	NP_001269477.1:n.*226_*227insGGTATCAAAGA
NM_001282549.2:c.*226_*227insGGTATCAAAGA	NP_001269478.1:n.*226_*227insGGTATCAAAGA
NR_104212.2:n.2525_2526insGGTATCAAAGA
NR_104215.2:n.2468_2469insGGTATCAAAGA
NR_104216.2:n.1724_1725insGGTATCAAAGA