Canonical Allele Identifier: CA2575647833

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786616_22786617insGGATG , CM000677.2:g.22786616_22786617insGGATG	GRCh38
NC_000015.9:g.23086452_23086453insATCCC , CM000677.1:g.23086452_23086453insATCCC	GRCh37
NC_000015.8:g.20637893_20637894insATCCC	NCBI36
NG_009056.1:g.5392_5393insGGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437912.6:c.-48+12303_-48+12304insGGATG	ENSP00000393962.2:n.-48+12303_-48+12304insGGATG
ENST00000560069.5:n.31+368_31+369insGGATG
ENST00000561183.5:c.-48+368_-48+369insGGATG	ENSP00000453722.1:n.-48+368_-48+369insGGATG
NM_001142275.1:c.-48+368_-48+369insGGATG	NP_001135747.1:n.-48+368_-48+369insGGATG