Canonical Allele Identifier: CA2627249094
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs2140841314
gnomAD v4: 15-22786691-C-CGGCGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786696_22786697insTGGCGG , CM000677.2:g.22786696_22786697insTGGCGG GRCh38
NC_000015.9:g.23086376_23086377insACCGCC , CM000677.1:g.23086376_23086377insACCGCC GRCh37
NC_000015.8:g.20637817_20637818insACCGCC NCBI36
NG_009056.1:g.5472_5473insTGGCGG

Transcript Alleles

HGVS Amino-acid change
ENST00000337435.9:c.40_41insTGGCGG MANE Select ENSP00000337452.4:p.Ala13_Ala14insValAla
ENST00000337435.8:c.40_41insTGGCGG ENSP00000337452.4:p.Ala13_Ala14insValAla
ENST00000437912.6:c.-48+12383_-48+12384insTGGCGG ENSP00000393962.2:n.-48+12383_-48+12384in...
ENST00000560069.5:n.31+448_31+449insTGGCGG
ENST00000561183.5:c.-48+448_-48+449insTGGCGG ENSP00000453722.1:n.-48+448_-48+449insTGG...
NM_001142275.1:c.-48+448_-48+449insTGGCGG NP_001135747.1:n.-48+448_-48+449insTGGCGG...
NM_144599.4:c.40_41insTGGCGG NP_653200.2:p.Ala13_Ala14insValAla
NM_144599.5:c.40_41insTGGCGG MANE Select NP_653200.2:p.Ala13_Ala14insValAla
Search 100 bp 5'
Search 100 bp 3'