Canonical Allele Identifier: CA2633367363

Gene: NUP93

Linked Data

• gnomAD v4: 16-56836656-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836658del , CM000678.2:g.56836658del	GRCh38
NC_000016.9:g.56870570del , CM000678.1:g.56870570del	GRCh37
NC_000016.8:g.55428071del	NCBI36
NG_052904.1:g.111554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1840del MANE Select	ENSP00000310668.5:p.Ser614LeufsTer28
ENST00000308159.9:c.1840del	ENSP00000310668.5:p.Ser614LeufsTer28
ENST00000542526.5:c.1471del	ENSP00000440235.1:p.Ser491LeufsTer28
ENST00000563405.1:c.34del	ENSP00000458078.1:p.Ser12LeufsTer28
ENST00000564887.5:c.1471del	ENSP00000458039.1:p.Ser491LeufsTer28
ENST00000569842.5:c.1840del	ENSP00000458101.1:p.Ser614LeufsTer28
NM_001242795.1:c.1471del	NP_001229724.1:p.Ser491LeufsTer28
NM_001242796.1:c.1471del	NP_001229725.1:p.Ser491LeufsTer28
NM_014669.4:c.1840del	NP_055484.3:p.Ser614LeufsTer28
XM_005256263.2:c.1840del	XP_005256320.1:p.Ser614LeufsTer28
NM_001242796.2:c.1471del	NP_001229725.1:p.Ser491LeufsTer28
XM_005256263.3:c.1840del	XP_005256320.1:p.Ser614LeufsTer28
NM_014669.5:c.1840del MANE Select	NP_055484.3:p.Ser614LeufsTer28
NM_001242795.2:c.1471del	NP_001229724.1:p.Ser491LeufsTer28