Canonical Allele Identifier: CA2730476343

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786700_22786701insAGCGGC , CM000677.2:g.22786700_22786701insAGCGGC	GRCh38
NC_000015.9:g.23086372_23086373insTGCCGC , CM000677.1:g.23086372_23086373insTGCCGC	GRCh37
NC_000015.8:g.20637813_20637814insTGCCGC	NCBI36
NG_009056.1:g.5476_5477insAGCGGC

Transcript Alleles

HGVS	Amino-acid Change
NM_144599.5:c.44_45insAGCGGC MANE Select	NP_653200.2:p.Ala15_Ala16insAlaAla
ENST00000337435.9:c.44_45insAGCGGC MANE Select	ENSP00000337452.4:p.Ala15_Ala16insAlaAla
NM_001142275.1:c.-48+452_-48+453insAGCGGC	NP_001135747.1:n.-48+452_-48+453insAGCGGC
NM_144599.4:c.44_45insAGCGGC	NP_653200.2:p.Ala15_Ala16insAlaAla
ENST00000337435.8:c.44_45insAGCGGC	ENSP00000337452.4:p.Ala15_Ala16insAlaAla
ENST00000437912.6:c.-48+12387_-48+12388insAGCGGC	ENSP00000393962.2:n.-48+12387_-48+12388insAGCGGC
ENST00000560069.5:n.31+452_31+453insAGCGGC
ENST00000561183.5:c.-48+452_-48+453insAGCGGC	ENSP00000453722.1:n.-48+452_-48+453insAGCGGC