Canonical Allele Identifier: CA2163910595
Gene: NIPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786677_22786698delinsAGCGGCGGCGGCGGCGGCGGCG , CM000677.2:g.22786677_22786698delinsAGCGGCGGCGGCGGCGGCGGCG GRCh38
NC_000015.9:g.23086370_23086391delinsCGCCGCCGCCGCCGCCGCCGCT , CM000677.1:g.23086370_23086391delinsCGCCGCCGCCGCCGCCGCCGCT GRCh37
NC_000015.8:g.20637811_20637832delinsCGCCGCCGCCGCCGCCGCCGCT NCBI36
NG_009056.1:g.5453_5474delinsAGCGGCGGCGGCGGCGGCGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.21_42delinsAGCGGCGGCGGCGGCGGCGGCG MANE Select ENSP00000337452.4:p.Ala7=
ENST00000337435.8:c.21_42delinsAGCGGCGGCGGCGGCGGCGGCG ENSP00000337452.4:p.Ala7=
ENST00000437912.6:c.-48+12364_-48+12385delinsAGCGGCGGCGGCGGCGGCGGCG ENSP00000393962.2:n.-48+12364_-48+12385delinsAGCGGCGGCGGCGGCG...
ENST00000560069.5:n.31+429_31+450delinsAGCGGCGGCGGCGGCGGCGGCG
ENST00000561183.5:c.-48+429_-48+450delinsAGCGGCGGCGGCGGCGGCGGCG ENSP00000453722.1:n.-48+429_-48+450delinsAGCGGCGGCGGCGGCGGCGG...
NM_001142275.1:c.-48+429_-48+450delinsAGCGGCGGCGGCGGCGGCGGCG NP_001135747.1:n.-48+429_-48+450delinsAGCGGCGGCGGCGGCGGCGGCG
NM_144599.4:c.21_42delinsAGCGGCGGCGGCGGCGGCGGCG NP_653200.2:p.Ala7=
NM_144599.5:c.21_42delinsAGCGGCGGCGGCGGCGGCGGCG MANE Select NP_653200.2:p.Ala7=