Canonical Allele Identifier: CA2163910621

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786703_22786712delinsCCGGGGAGGG , CM000677.2:g.22786703_22786712delinsCCGGGGAGGG	GRCh38
NC_000015.9:g.23086356_23086365delinsCCCTCCCCGG , CM000677.1:g.23086356_23086365delinsCCCTCCCCGG	GRCh37
NC_000015.8:g.20637797_20637806delinsCCCTCCCCGG	NCBI36
NG_009056.1:g.5479_5488delinsCCGGGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.47_56delinsCCGGGGAGGG MANE Select	ENSP00000337452.4:p.Ala16=
ENST00000337435.8:c.47_56delinsCCGGGGAGGG	ENSP00000337452.4:p.Ala16=
ENST00000437912.6:c.-48+12390_-48+12399delinsCCGGGGAGGG	ENSP00000393962.2:n.-48+12390_-48+12399delinsCCGGGGAGGG
ENST00000560069.5:n.31+455_31+464delinsCCGGGGAGGG
ENST00000561183.5:c.-48+455_-48+464delinsCCGGGGAGGG	ENSP00000453722.1:n.-48+455_-48+464delinsCCGGGGAGGG
NM_001142275.1:c.-48+455_-48+464delinsCCGGGGAGGG	NP_001135747.1:n.-48+455_-48+464delinsCCGGGGAGGG
NM_144599.4:c.47_56delinsCCGGGGAGGG	NP_653200.2:p.Ala16=
NM_144599.5:c.47_56delinsCCGGGGAGGG MANE Select	NP_653200.2:p.Ala16=