Canonical Allele Identifier: CA2662969431

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728447-A-AGATTCTGGTGTCCTCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728447_214728448insGATTCTGGTGTCCTCATT , CM000664.2:g.214728447_214728448insGATTCTGGTGTCCTCATT	GRCh38
NC_000002.11:g.215593171_215593172insGATTCTGGTGTCCTCATT , CM000664.1:g.215593171_215593172insGATTCTGGTGTCCTCATT	GRCh37
NC_000002.10:g.215301416_215301417insGATTCTGGTGTCCTCATT	NCBI36
NG_012047.2:g.86257_86258insAATGAGGACACCAGAATC
NG_012047.3:g.86264_86265insAATGAGGACACCAGAATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*228_*229insAATGAGGACACCAGAATC MANE Select	ENSP00000260947.4:n.*228_*229insAATGAGGACACCAGAATC
ENST00000260947.8:c.*228_*229insAATGAGGACACCAGAATC	ENSP00000260947.4:n.*228_*229insAATGAGGACACCAGAATC
ENST00000471590.5:n.897_898insAATGAGGACACCAGAATC
ENST00000613374.4:c.*228_*229insAATGAGGACACCAGAATC	ENSP00000484464.1:n.*228_*229insAATGAGGACACCAGAATC
ENST00000613706.4:c.*228_*229insAATGAGGACACCAGAATC	ENSP00000484976.1:n.*228_*229insAATGAGGACACCAGAATC
ENST00000617164.4:c.*228_*229insAATGAGGACACCAGAATC	ENSP00000480470.1:n.*228_*229insAATGAGGACACCAGAATC
ENST00000619009.4:c.*228_*229insAATGAGGACACCAGAATC	ENSP00000482293.1:n.*228_*229insAATGAGGACACCAGAATC
NM_000465.3:c.*228_*229insAATGAGGACACCAGAATC	NP_000456.2:n.*228_*229insAATGAGGACACCAGAATC
NM_001282543.1:c.*228_*229insAATGAGGACACCAGAATC	NP_001269472.1:n.*228_*229insAATGAGGACACCAGAATC
NM_001282545.1:c.*228_*229insAATGAGGACACCAGAATC	NP_001269474.1:n.*228_*229insAATGAGGACACCAGAATC
NM_001282548.1:c.*228_*229insAATGAGGACACCAGAATC	NP_001269477.1:n.*228_*229insAATGAGGACACCAGAATC
NM_001282549.1:c.*228_*229insAATGAGGACACCAGAATC	NP_001269478.1:n.*228_*229insAATGAGGACACCAGAATC
NR_104212.1:n.2555_2556insAATGAGGACACCAGAATC
NR_104215.1:n.2498_2499insAATGAGGACACCAGAATC
NR_104216.1:n.1754_1755insAATGAGGACACCAGAATC
XM_011511567.1:c.*228_*229insAATGAGGACACCAGAATC	XP_011509869.1:n.*228_*229insAATGAGGACACCAGAATC
XM_017004613.1:c.*228_*229insAATGAGGACACCAGAATC	XP_016860102.1:n.*228_*229insAATGAGGACACCAGAATC
NM_000465.4:c.*228_*229insAATGAGGACACCAGAATC MANE Select	NP_000456.2:n.*228_*229insAATGAGGACACCAGAATC
NM_001282543.2:c.*228_*229insAATGAGGACACCAGAATC	NP_001269472.1:n.*228_*229insAATGAGGACACCAGAATC
NM_001282545.2:c.*228_*229insAATGAGGACACCAGAATC	NP_001269474.1:n.*228_*229insAATGAGGACACCAGAATC
NM_001282548.2:c.*228_*229insAATGAGGACACCAGAATC	NP_001269477.1:n.*228_*229insAATGAGGACACCAGAATC
NM_001282549.2:c.*228_*229insAATGAGGACACCAGAATC	NP_001269478.1:n.*228_*229insAATGAGGACACCAGAATC
NR_104212.2:n.2527_2528insAATGAGGACACCAGAATC
NR_104215.2:n.2470_2471insAATGAGGACACCAGAATC
NR_104216.2:n.1726_1727insAATGAGGACACCAGAATC