Canonical Allele Identifier: CA2680562420

Gene: CITED2

Linked Data

• gnomAD v4: 6-139372940-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372944_139372945del , CM000668.2:g.139372944_139372945del	GRCh38
NC_000006.11:g.139694081_139694082del , CM000668.1:g.139694081_139694082del	GRCh37
NC_000006.10:g.139735774_139735775del	NCBI36
NG_016169.1:g.6707_6708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*190_*191del MANE Select	ENSP00000356623.2:n.*190_*191del
ENST00000367651.3:c.*190_*191del	ENSP00000356623.2:n.*190_*191del
ENST00000536159.2:c.*190_*191del	ENSP00000442831.1:n.*190_*191del
ENST00000537332.2:c.*190_*191del	ENSP00000444198.2:n.*190_*191del
NM_001168388.2:c.*190_*191del	NP_001161860.1:n.*190_*191del
NM_001168389.2:c.*190_*191del	NP_001161861.2:n.*190_*191del
NM_006079.4:c.*190_*191del	NP_006070.2:n.*190_*191del
NM_006079.5:c.*190_*191del MANE Select	NP_006070.2:n.*190_*191del
NM_001168388.3:c.*190_*191del	NP_001161860.1:n.*190_*191del
NM_001168389.3:c.*190_*191del	NP_001161861.2:n.*190_*191del