Canonical Allele Identifier: CA2627249194

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786703_22786704insGGCAGC , CM000677.2:g.22786703_22786704insGGCAGC	GRCh38
NC_000015.9:g.23086366_23086367insTGCCGC , CM000677.1:g.23086366_23086367insTGCCGC	GRCh37
NC_000015.8:g.20637807_20637808insTGCCGC	NCBI36
NG_009056.1:g.5479_5480insGGCAGC

Transcript Alleles

HGVS	Amino-acid Change
NM_144599.5:c.47_48insGGCAGC MANE Select	NP_653200.2:p.Ala16_Gly17insAlaAla
ENST00000337435.9:c.47_48insGGCAGC MANE Select	ENSP00000337452.4:p.Ala16_Gly17insAlaAla
NM_001142275.1:c.-48+455_-48+456insGGCAGC	NP_001135747.1:n.-48+455_-48+456insGGCAGC
NM_144599.4:c.47_48insGGCAGC	NP_653200.2:p.Ala16_Gly17insAlaAla
ENST00000337435.8:c.47_48insGGCAGC	ENSP00000337452.4:p.Ala16_Gly17insAlaAla
ENST00000437912.6:c.-48+12390_-48+12391insGGCAGC	ENSP00000393962.2:n.-48+12390_-48+12391insGGCAGC
ENST00000560069.5:n.31+455_31+456insGGCAGC
ENST00000561183.5:c.-48+455_-48+456insGGCAGC	ENSP00000453722.1:n.-48+455_-48+456insGGCAGC