Canonical Allele Identifier: CA967611939
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs531550505
gnomAD v3: 15-22786677-AGCGGCGGCGGCGGCGGCG-A
gnomAD v4: 15-22786677-AGCGGCGGCGGCGGCGGCG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786686_22786703del , CM000677.2:g.22786686_22786703del GRCh38
NC_000015.9:g.23086373_23086390del , CM000677.1:g.23086373_23086390del GRCh37
NC_000015.8:g.20637814_20637831del NCBI36
NG_009056.1:g.5462_5479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.30_47del MANE Select ENSP00000337452.4:p.Ala11_Ala16del
ENST00000337435.8:c.30_47del ENSP00000337452.4:p.Ala11_Ala16del
ENST00000437912.6:c.-48+12373_-48+12390del ENSP00000393962.2:n.-48+12373_-48+12390del
ENST00000560069.5:n.31+438_31+455del
ENST00000561183.5:c.-48+438_-48+455del ENSP00000453722.1:n.-48+438_-48+455del
NM_001142275.1:c.-48+438_-48+455del NP_001135747.1:n.-48+438_-48+455del
NM_144599.4:c.30_47del NP_653200.2:p.Ala11_Ala16del
NM_144599.5:c.30_47del MANE Select NP_653200.2:p.Ala11_Ala16del
Search 100 bp 5'
Search 100 bp 3'