Canonical Allele Identifier: CA722010175

Gene: NUP93

Linked Data

• dbSNP Id: rs1459995044
• gnomAD v3: 16-56836372-C-CTAGTAAGT
• gnomAD v4: 16-56836372-C-CTAGTAAGT
• MyVariant Identifiers: chr16:g.56870284_56870285insTAGTAAGT (hg19) ; chr16:g.56836372_56836373insTAGTAAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836373_56836380dup , CM000678.2:g.56836373_56836380dup	GRCh38
NC_000016.9:g.56870285_56870292dup , CM000678.1:g.56870285_56870292dup	GRCh37
NC_000016.8:g.55427786_55427793dup	NCBI36
NG_052904.1:g.111269_111276dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1783-228_1783-221dup MANE Select	ENSP00000310668.5:n.1783-228_1783-221dup
ENST00000308159.9:c.1783-228_1783-221dup	ENSP00000310668.5:n.1783-228_1783-221dup
ENST00000542526.5:c.1414-228_1414-221dup	ENSP00000440235.1:n.1414-228_1414-221dup
ENST00000564887.5:c.1414-228_1414-221dup	ENSP00000458039.1:n.1414-228_1414-221dup
ENST00000569842.5:c.1783-228_1783-221dup	ENSP00000458101.1:n.1783-228_1783-221dup
NM_001242795.1:c.1414-228_1414-221dup	NP_001229724.1:n.1414-228_1414-221dup
NM_001242796.1:c.1414-228_1414-221dup	NP_001229725.1:n.1414-228_1414-221dup
NM_014669.4:c.1783-228_1783-221dup	NP_055484.3:n.1783-228_1783-221dup
XM_005256263.2:c.1783-228_1783-221dup	XP_005256320.1:n.1783-228_1783-221dup
NM_001242796.2:c.1414-228_1414-221dup	NP_001229725.1:n.1414-228_1414-221dup
XM_005256263.3:c.1783-228_1783-221dup	XP_005256320.1:n.1783-228_1783-221dup
NM_014669.5:c.1783-228_1783-221dup MANE Select	NP_055484.3:n.1783-228_1783-221dup
NM_001242795.2:c.1414-228_1414-221dup	NP_001229724.1:n.1414-228_1414-221dup