Canonical Allele Identifier: CA2163910573

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786668_22786671delinsAGCT , CM000677.2:g.22786668_22786671delinsAGCT	GRCh38
NC_000015.9:g.23086397_23086400delinsAGCT , CM000677.1:g.23086397_23086400delinsAGCT	GRCh37
NC_000015.8:g.20637838_20637841delinsAGCT	NCBI36
NG_009056.1:g.5444_5447delinsAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.12_15delinsAGCT MANE Select	ENSP00000337452.4:p.Ala4=
ENST00000337435.8:c.12_15delinsAGCT	ENSP00000337452.4:p.Ala4=
ENST00000437912.6:c.-48+12355_-48+12358delinsAGCT	ENSP00000393962.2:n.-48+12355_-48+12358delinsAGCT
ENST00000560069.5:n.31+420_31+423delinsAGCT
ENST00000561183.5:c.-48+420_-48+423delinsAGCT	ENSP00000453722.1:n.-48+420_-48+423delinsAGCT
NM_001142275.1:c.-48+420_-48+423delinsAGCT	NP_001135747.1:n.-48+420_-48+423delinsAGCT
NM_144599.4:c.12_15delinsAGCT	NP_653200.2:p.Ala4=
NM_144599.5:c.12_15delinsAGCT MANE Select	NP_653200.2:p.Ala4=