Canonical Allele Identifier: CA2580089107

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22820440_22820441insCGACTC , CM000677.2:g.22820440_22820441insCGACTC	GRCh38
NC_000015.9:g.23052631_23052632insCGGAGT , CM000677.1:g.23052631_23052632insCGGAGT	GRCh37
NC_000015.8:g.20604072_20604073insCGGAGT	NCBI36
NG_009056.1:g.39216_39217insCGACTC

Transcript Alleles

HGVS	Amino-acid Change
NM_144599.5:c.445_446insCGACTC MANE Select	NP_653200.2:p.Thr148_Gln149insProThr
ENST00000337435.9:c.445_446insCGACTC MANE Select	ENSP00000337452.4:p.Thr148_Gln149insProThr
NM_001142275.1:c.220_221insCGACTC	NP_001135747.1:p.Thr73_Gln74insProThr
NM_144599.4:c.445_446insCGACTC	NP_653200.2:p.Thr148_Gln149insProThr
ENST00000337435.8:c.445_446insCGACTC	ENSP00000337452.4:p.Thr148_Gln149insProThr
ENST00000437912.6:c.220_221insCGACTC	ENSP00000393962.2:p.Thr73_Gln74insProThr
ENST00000557930.1:c.360_361insCGACTC	ENSP00000453797.1:n.360_361insCGACTC
ENST00000559448.5:c.417_418insCGACTC
ENST00000560069.5:n.498_499insCGACTC
ENST00000561183.5:c.220_221insCGACTC	ENSP00000453722.1:p.Thr73_Gln74insProThr