Canonical Allele Identifier: CA2627249082
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786685-CGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786686_22786687del , CM000677.2:g.22786686_22786687del GRCh38
NC_000015.9:g.23086381_23086382del , CM000677.1:g.23086381_23086382del GRCh37
NC_000015.8:g.20637822_20637823del NCBI36
NG_009056.1:g.5462_5463del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.30_31del MANE Select ENSP00000337452.4:p.Ala11GlyfsTer11
ENST00000337435.8:c.30_31del ENSP00000337452.4:p.Ala11GlyfsTer11
ENST00000437912.6:c.-48+12373_-48+12374del ENSP00000393962.2:n.-48+12373_-48+12374del
ENST00000560069.5:n.31+438_31+439del
ENST00000561183.5:c.-48+438_-48+439del ENSP00000453722.1:n.-48+438_-48+439del
NM_001142275.1:c.-48+438_-48+439del NP_001135747.1:n.-48+438_-48+439del
NM_144599.4:c.30_31del NP_653200.2:p.Ala11GlyfsTer11
NM_144599.5:c.30_31del MANE Select NP_653200.2:p.Ala11GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'