Canonical Allele Identifier: CA2163910547

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786641_22786647delinsGGCGGGC , CM000677.2:g.22786641_22786647delinsGGCGGGC	GRCh38
NC_000015.9:g.23086421_23086427delinsGCCCGCC , CM000677.1:g.23086421_23086427delinsGCCCGCC	GRCh37
NC_000015.8:g.20637862_20637868delinsGCCCGCC	NCBI36
NG_009056.1:g.5417_5423delinsGGCGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.8:c.-16_-10delinsGGCGGGC	ENSP00000337452.4:n.-16_-10delinsGGCGGGC
ENST00000437912.6:c.-48+12328_-48+12334delinsGGCGGGC	ENSP00000393962.2:n.-48+12328_-48+12334delinsGGCGGGC
ENST00000560069.5:n.31+393_31+399delinsGGCGGGC
ENST00000561183.5:c.-48+393_-48+399delinsGGCGGGC	ENSP00000453722.1:n.-48+393_-48+399delinsGGCGGGC
NM_001142275.1:c.-48+393_-48+399delinsGGCGGGC	NP_001135747.1:n.-48+393_-48+399delinsGGCGGGC
NM_144599.4:c.-16_-10delinsGGCGGGC	NP_653200.2:n.-16_-10delinsGGCGGGC