Canonical Allele Identifier: CA2680562558

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373394-CCCGAGCTGCTGCCAGAGCCGCCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373395_139373418del , CM000668.2:g.139373395_139373418del	GRCh38
NC_000006.11:g.139694532_139694555del , CM000668.1:g.139694532_139694555del	GRCh37
NC_000006.10:g.139736225_139736248del	NCBI36
NG_016169.1:g.6231_6254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.527_550del MANE Select	ENSP00000356623.2:p.Pro176_Gly184delinsArg
ENST00000367651.3:c.527_550del	ENSP00000356623.2:p.Pro176_Gly184delinsArg
ENST00000536159.2:c.527_550del	ENSP00000442831.1:p.Pro176_Gly184delinsArg
ENST00000537332.2:c.542_565del	ENSP00000444198.2:p.Pro181_Gly189delinsArg
ENST00000618718.1:c.476+51_476+74del	ENSP00000479918.1:n.476+51_476+74del
NM_001168388.2:c.527_550del	NP_001161860.1:p.Pro176_Gly184delinsArg
NM_001168389.2:c.542_565del	NP_001161861.2:p.Pro181_Gly189delinsArg
NM_006079.4:c.527_550del	NP_006070.2:p.Pro176_Gly184delinsArg
NM_006079.5:c.527_550del MANE Select	NP_006070.2:p.Pro176_Gly184delinsArg
NM_001168388.3:c.527_550del	NP_001161860.1:p.Pro176_Gly184delinsArg
NM_001168389.3:c.542_565del	NP_001161861.2:p.Pro181_Gly189delinsArg