Canonical Allele Identifier: CA8068407

Gene: NUP93

Linked Data

• dbSNP Id: rs779062323
• ExAC: 16:56867115 C / CCT
• gnomAD v2: 16-56867115-C-CCT
• gnomAD v4: 16-56833203-C-CCT
• MyVariant Identifiers: chr16:g.56867115_56867116insCT (hg19) ; chr16:g.56833203_56833204insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56833209_56833210dup , CM000678.2:g.56833209_56833210dup	GRCh38
NC_000016.9:g.56867121_56867122dup , CM000678.1:g.56867121_56867122dup	GRCh37
NC_000016.8:g.55424622_55424623dup	NCBI36
NG_052904.1:g.108105_108106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1346-6_1346-5dup MANE Select	ENSP00000310668.5:n.1346-6_1346-5dup
ENST00000308159.9:c.1346-6_1346-5dup	ENSP00000310668.5:n.1346-6_1346-5dup
ENST00000542526.5:c.977-6_977-5dup	ENSP00000440235.1:n.977-6_977-5dup
ENST00000563437.1:n.588-6_588-5dup
ENST00000564887.5:c.977-6_977-5dup	ENSP00000458039.1:n.977-6_977-5dup
ENST00000569842.5:c.1346-6_1346-5dup	ENSP00000458101.1:n.1346-6_1346-5dup
NM_001242795.1:c.977-6_977-5dup	NP_001229724.1:n.977-6_977-5dup
NM_001242796.1:c.977-6_977-5dup	NP_001229725.1:n.977-6_977-5dup
NM_014669.4:c.1346-6_1346-5dup	NP_055484.3:n.1346-6_1346-5dup
XM_005256263.2:c.1346-6_1346-5dup	XP_005256320.1:n.1346-6_1346-5dup
NM_001242796.2:c.977-6_977-5dup	NP_001229725.1:n.977-6_977-5dup
XM_005256263.3:c.1346-6_1346-5dup	XP_005256320.1:n.1346-6_1346-5dup
NM_014669.5:c.1346-6_1346-5dup MANE Select	NP_055484.3:n.1346-6_1346-5dup
NM_001242795.2:c.977-6_977-5dup	NP_001229724.1:n.977-6_977-5dup