Canonical Allele Identifier: CA2680562552

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373361-CCGCCGCCGCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373362_139373373del , CM000668.2:g.139373362_139373373del	GRCh38
NC_000006.11:g.139694499_139694510del , CM000668.1:g.139694499_139694510del	GRCh37
NC_000006.10:g.139736192_139736203del	NCBI36
NG_016169.1:g.6276_6287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.572_583del MANE Select	ENSP00000356623.2:p.Asn191_Gly195delinsSer
ENST00000367651.3:c.572_583del	ENSP00000356623.2:p.Asn191_Gly195delinsSer
ENST00000536159.2:c.572_583del	ENSP00000442831.1:p.Asn191_Gly195delinsSer
ENST00000537332.2:c.587_598del	ENSP00000444198.2:p.Asn196_Gly200delinsSer
ENST00000618718.1:c.477-76_477-65del	ENSP00000479918.1:n.477-76_477-65del
NM_001168388.2:c.572_583del	NP_001161860.1:p.Asn191_Gly195delinsSer
NM_001168389.2:c.587_598del	NP_001161861.2:p.Asn196_Gly200delinsSer
NM_006079.4:c.572_583del	NP_006070.2:p.Asn191_Gly195delinsSer
NM_006079.5:c.572_583del MANE Select	NP_006070.2:p.Asn191_Gly195delinsSer
NM_001168388.3:c.572_583del	NP_001161860.1:p.Asn191_Gly195delinsSer
NM_001168389.3:c.587_598del	NP_001161861.2:p.Asn196_Gly200delinsSer