Canonical Allele Identifier: CA2742041010

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786677_22786683delinsAGCGGCG , CM000677.2:g.22786677_22786683delinsAGCGGCG	GRCh38
NC_000015.9:g.23086385_23086391delinsCGCCGCT , CM000677.1:g.23086385_23086391delinsCGCCGCT	GRCh37
NC_000015.8:g.20637826_20637832delinsCGCCGCT	NCBI36
NG_009056.1:g.5453_5459delinsAGCGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.21_27delinsAGCGGCG MANE Select	ENSP00000337452.4:p.Ala7=
ENST00000337435.8:c.21_27delinsAGCGGCG	ENSP00000337452.4:p.Ala7=
ENST00000437912.6:c.-48+12364_-48+12370delinsAGCGGCG	ENSP00000393962.2:n.-48+12364_-48+12370delinsAGCGGCG
ENST00000560069.5:n.31+429_31+435delinsAGCGGCG
ENST00000561183.5:c.-48+429_-48+435delinsAGCGGCG	ENSP00000453722.1:n.-48+429_-48+435delinsAGCGGCG
NM_001142275.1:c.-48+429_-48+435delinsAGCGGCG	NP_001135747.1:n.-48+429_-48+435delinsAGCGGCG
NM_144599.4:c.21_27delinsAGCGGCG	NP_653200.2:p.Ala7=
NM_144599.5:c.21_27delinsAGCGGCG MANE Select	NP_653200.2:p.Ala7=