Canonical Allele Identifier: CA622339548

Gene: NUP93

Linked Data

• dbSNP Id: rs1159844484
• gnomAD v2: 16-56870742-A-AT
• gnomAD v3: 16-56836830-A-AT
• gnomAD v4: 16-56836830-A-AT
• MyVariant Identifiers: chr16:g.56870742_56870743insT (hg19) ; chr16:g.56836830_56836831insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836833dup , CM000678.2:g.56836833dup	GRCh38
NC_000016.9:g.56870745dup , CM000678.1:g.56870745dup	GRCh37
NC_000016.8:g.55428246dup	NCBI36
NG_052904.1:g.111729dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1899+116dup MANE Select	ENSP00000310668.5:n.1899+116dup
ENST00000308159.9:c.1899+116dup	ENSP00000310668.5:n.1899+116dup
ENST00000542526.5:c.1530+116dup	ENSP00000440235.1:n.1530+116dup
ENST00000563405.1:c.93+116dup	ENSP00000458078.1:n.93+116dup
ENST00000564887.5:c.1530+116dup	ENSP00000458039.1:n.1530+116dup
ENST00000569842.5:c.1899+116dup	ENSP00000458101.1:n.1899+116dup
NM_001242795.1:c.1530+116dup	NP_001229724.1:n.1530+116dup
NM_001242796.1:c.1530+116dup	NP_001229725.1:n.1530+116dup
NM_014669.4:c.1899+116dup	NP_055484.3:n.1899+116dup
XM_005256263.2:c.1899+116dup	XP_005256320.1:n.1899+116dup
NM_001242796.2:c.1530+116dup	NP_001229725.1:n.1530+116dup
XM_005256263.3:c.1899+116dup	XP_005256320.1:n.1899+116dup
NM_014669.5:c.1899+116dup MANE Select	NP_055484.3:n.1899+116dup
NM_001242795.2:c.1530+116dup	NP_001229724.1:n.1530+116dup