Canonical Allele Identifier: CA2680562409

Gene: CITED2

Linked Data

• gnomAD v4: 6-139372927-TACAAAAACGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372936_139372946del , CM000668.2:g.139372936_139372946del	GRCh38
NC_000006.11:g.139694073_139694083del , CM000668.1:g.139694073_139694083del	GRCh37
NC_000006.10:g.139735766_139735776del	NCBI36
NG_016169.1:g.6711_6721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*194_*204del MANE Select	ENSP00000356623.2:n.*194_*204del
ENST00000367651.3:c.*194_*204del	ENSP00000356623.2:n.*194_*204del
ENST00000536159.2:c.*194_*204del	ENSP00000442831.1:n.*194_*204del
ENST00000537332.2:c.*194_*204del	ENSP00000444198.2:n.*194_*204del
NM_001168388.2:c.*194_*204del	NP_001161860.1:n.*194_*204del
NM_001168389.2:c.*194_*204del	NP_001161861.2:n.*194_*204del
NM_006079.4:c.*194_*204del	NP_006070.2:n.*194_*204del
NM_006079.5:c.*194_*204del MANE Select	NP_006070.2:n.*194_*204del
NM_001168388.3:c.*194_*204del	NP_001161860.1:n.*194_*204del
NM_001168389.3:c.*194_*204del	NP_001161861.2:n.*194_*204del