Canonical Allele Identifier: CA2578756311

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373373-TTGCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373377_139373382del , CM000668.2:g.139373377_139373382del	GRCh38
NC_000006.11:g.139694514_139694519del , CM000668.1:g.139694514_139694519del	GRCh37
NC_000006.10:g.139736207_139736212del	NCBI36
NG_016169.1:g.6270_6275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.566_571del MANE Select	ENSP00000356623.2:p.Ser189_Ser190del
ENST00000367651.3:c.566_571del	ENSP00000356623.2:p.Ser189_Ser190del
ENST00000536159.2:c.566_571del	ENSP00000442831.1:p.Ser189_Ser190del
ENST00000537332.2:c.581_586del	ENSP00000444198.2:p.Ser194_Ser195del
ENST00000618718.1:c.477-82_477-77del	ENSP00000479918.1:n.477-82_477-77del
NM_001168388.2:c.566_571del	NP_001161860.1:p.Ser189_Ser190del
NM_001168389.2:c.581_586del	NP_001161861.2:p.Ser194_Ser195del
NM_006079.4:c.566_571del	NP_006070.2:p.Ser189_Ser190del
NM_006079.5:c.566_571del MANE Select	NP_006070.2:p.Ser189_Ser190del
NM_001168388.3:c.566_571del	NP_001161860.1:p.Ser189_Ser190del
NM_001168389.3:c.581_586del	NP_001161861.2:p.Ser194_Ser195del