Canonical Allele Identifier: CA2163910588

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786672_22786677delinsGCGGCA , CM000677.2:g.22786672_22786677delinsGCGGCA	GRCh38
NC_000015.9:g.23086391_23086396delinsTGCCGC , CM000677.1:g.23086391_23086396delinsTGCCGC	GRCh37
NC_000015.8:g.20637832_20637837delinsTGCCGC	NCBI36
NG_009056.1:g.5448_5453delinsGCGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.16_21delinsGCGGCA MANE Select	ENSP00000337452.4:p.Ala6=
ENST00000337435.8:c.16_21delinsGCGGCA	ENSP00000337452.4:p.Ala6=
ENST00000437912.6:c.-48+12359_-48+12364delinsGCGGCA	ENSP00000393962.2:n.-48+12359_-48+12364delinsGCGGCA
ENST00000560069.5:n.31+424_31+429delinsGCGGCA
ENST00000561183.5:c.-48+424_-48+429delinsGCGGCA	ENSP00000453722.1:n.-48+424_-48+429delinsGCGGCA
NM_001142275.1:c.-48+424_-48+429delinsGCGGCA	NP_001135747.1:n.-48+424_-48+429delinsGCGGCA
NM_144599.4:c.16_21delinsGCGGCA	NP_653200.2:p.Ala6=
NM_144599.5:c.16_21delinsGCGGCA MANE Select	NP_653200.2:p.Ala6=