Canonical Allele Identifier: CA281501857

Gene: NUP93

Linked Data

• dbSNP Id: rs760126851
• gnomAD v4: 16-56836722-AGT-A
• MyVariant Identifiers: chr16:g.56870635_56870636del (hg19) ; chr16:g.56836723_56836724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836726_56836727del , CM000678.2:g.56836726_56836727del	GRCh38
NC_000016.9:g.56870638_56870639del , CM000678.1:g.56870638_56870639del	GRCh37
NC_000016.8:g.55428139_55428140del	NCBI36
NG_052904.1:g.111622_111623del

Transcript Alleles

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