Canonical Allele Identifier: CA2633366288

Gene: NUP93

Linked Data

• gnomAD v4: 16-56833304-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56833308del , CM000678.2:g.56833308del	GRCh38
NC_000016.9:g.56867220del , CM000678.1:g.56867220del	GRCh37
NC_000016.8:g.55424721del	NCBI36
NG_052904.1:g.108204del

Transcript Alleles

HGVS	Amino-acid change
ENST00000308159.10:c.1439del MANE Select	ENSP00000310668.5:p.Phe480SerfsTer13
ENST00000308159.9:c.1439del	ENSP00000310668.5:p.Phe480SerfsTer13
ENST00000542526.5:c.1070del	ENSP00000440235.1:p.Phe357SerfsTer13
ENST00000563437.1:n.681del
ENST00000564887.5:c.1070del	ENSP00000458039.1:p.Phe357SerfsTer13
ENST00000569842.5:c.1439del	ENSP00000458101.1:p.Phe480SerfsTer13
NM_001242795.1:c.1070del	NP_001229724.1:p.Phe357SerfsTer13
NM_001242796.1:c.1070del	NP_001229725.1:p.Phe357SerfsTer13
NM_014669.4:c.1439del	NP_055484.3:p.Phe480SerfsTer13
XM_005256263.2:c.1439del	XP_005256320.1:p.Phe480SerfsTer13
NM_001242796.2:c.1070del	NP_001229725.1:p.Phe357SerfsTer13
XM_005256263.3:c.1439del	XP_005256320.1:p.Phe480SerfsTer13
NM_014669.5:c.1439del MANE Select	NP_055484.3:p.Phe480SerfsTer13
NM_001242795.2:c.1070del	NP_001229724.1:p.Phe357SerfsTer13