Canonical Allele Identifier: CA722010243

Gene: NUP93

Linked Data

• dbSNP Id: rs1403311456
• gnomAD v3: 16-56836731-ACTTC-A
• gnomAD v4: 16-56836731-ACTTC-A
• MyVariant Identifiers: chr16:g.56870644_56870647del (hg19) ; chr16:g.56836732_56836735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836736_56836739del , CM000678.2:g.56836736_56836739del	GRCh38
NC_000016.9:g.56870648_56870651del , CM000678.1:g.56870648_56870651del	GRCh37
NC_000016.8:g.55428149_55428152del	NCBI36
NG_052904.1:g.111632_111635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1899+19_1899+22del MANE Select	ENSP00000310668.5:n.1899+19_1899+22del
ENST00000308159.9:c.1899+19_1899+22del	ENSP00000310668.5:n.1899+19_1899+22del
ENST00000542526.5:c.1530+19_1530+22del	ENSP00000440235.1:n.1530+19_1530+22del
ENST00000563405.1:c.93+19_93+22del	ENSP00000458078.1:n.93+19_93+22del
ENST00000564887.5:c.1530+19_1530+22del	ENSP00000458039.1:n.1530+19_1530+22del
ENST00000569842.5:c.1899+19_1899+22del	ENSP00000458101.1:n.1899+19_1899+22del
NM_001242795.1:c.1530+19_1530+22del	NP_001229724.1:n.1530+19_1530+22del
NM_001242796.1:c.1530+19_1530+22del	NP_001229725.1:n.1530+19_1530+22del
NM_014669.4:c.1899+19_1899+22del	NP_055484.3:n.1899+19_1899+22del
XM_005256263.2:c.1899+19_1899+22del	XP_005256320.1:n.1899+19_1899+22del
NM_001242796.2:c.1530+19_1530+22del	NP_001229725.1:n.1530+19_1530+22del
XM_005256263.3:c.1899+19_1899+22del	XP_005256320.1:n.1899+19_1899+22del
NM_014669.5:c.1899+19_1899+22del MANE Select	NP_055484.3:n.1899+19_1899+22del
NM_001242795.2:c.1530+19_1530+22del	NP_001229724.1:n.1530+19_1530+22del