Canonical Allele Identifier: CA1095070489
Gene: CITED2 HGNC NCBI

Linked Data

gnomAD v3: 6-139372935-CG-C
gnomAD v4: 6-139372935-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139372936del , CM000668.2:g.139372936del GRCh38
NC_000006.11:g.139694073del , CM000668.1:g.139694073del GRCh37
NC_000006.10:g.139735766del NCBI36
NG_016169.1:g.6713del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.*196del MANE Select ENSP00000356623.2:n.*196del
ENST00000367651.3:c.*196del ENSP00000356623.2:n.*196del
ENST00000536159.2:c.*196del ENSP00000442831.1:n.*196del
ENST00000537332.2:c.*196del ENSP00000444198.2:n.*196del
NM_001168388.2:c.*196del NP_001161860.1:n.*196del
NM_001168389.2:c.*196del NP_001161861.2:n.*196del
NM_006079.4:c.*196del NP_006070.2:n.*196del
NM_006079.5:c.*196del MANE Select NP_006070.2:n.*196del
NM_001168388.3:c.*196del NP_001161860.1:n.*196del
NM_001168389.3:c.*196del NP_001161861.2:n.*196del
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