Canonical Allele Identifier: CA2680562556

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373380-TGCCCGCGCCGCCGCCCGAGCTGCTGCCAGAGCCGCCGGGGGTGCTGCTGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373386_139373436del , CM000668.2:g.139373386_139373436del	GRCh38
NC_000006.11:g.139694523_139694573del , CM000668.1:g.139694523_139694573del	GRCh37
NC_000006.10:g.139736216_139736266del	NCBI36
NG_016169.1:g.6218_6268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.514_564del MANE Select	ENSP00000356623.2:p.Gly172_Gly188del
ENST00000367651.3:c.514_564del	ENSP00000356623.2:p.Gly172_Gly188del
ENST00000536159.2:c.514_564del	ENSP00000442831.1:p.Gly172_Gly188del
ENST00000537332.2:c.529_579del	ENSP00000444198.2:p.Gly177_Gly193del
ENST00000618718.1:c.476+38_477-84del	ENSP00000479918.1:n.476+38_477-84del
NM_001168388.2:c.514_564del	NP_001161860.1:p.Gly172_Gly188del
NM_001168389.2:c.529_579del	NP_001161861.2:p.Gly177_Gly193del
NM_006079.4:c.514_564del	NP_006070.2:p.Gly172_Gly188del
NM_006079.5:c.514_564del MANE Select	NP_006070.2:p.Gly172_Gly188del
NM_001168388.3:c.514_564del	NP_001161860.1:p.Gly172_Gly188del
NM_001168389.3:c.529_579del	NP_001161861.2:p.Gly177_Gly193del