Canonical Allele Identifier: CA2163910591

Gene: NIPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786674_22786677delinsGGCA , CM000677.2:g.22786674_22786677delinsGGCA	GRCh38
NC_000015.9:g.23086391_23086394delinsTGCC , CM000677.1:g.23086391_23086394delinsTGCC	GRCh37
NC_000015.8:g.20637832_20637835delinsTGCC	NCBI36
NG_009056.1:g.5450_5453delinsGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.18_21delinsGGCA MANE Select	ENSP00000337452.4:p.Ala6=
ENST00000337435.8:c.18_21delinsGGCA	ENSP00000337452.4:p.Ala6=
ENST00000437912.6:c.-48+12361_-48+12364delinsGGCA	ENSP00000393962.2:n.-48+12361_-48+12364delinsGGCA
ENST00000560069.5:n.31+426_31+429delinsGGCA
ENST00000561183.5:c.-48+426_-48+429delinsGGCA	ENSP00000453722.1:n.-48+426_-48+429delinsGGCA
NM_001142275.1:c.-48+426_-48+429delinsGGCA	NP_001135747.1:n.-48+426_-48+429delinsGGCA
NM_144599.4:c.18_21delinsGGCA	NP_653200.2:p.Ala6=
NM_144599.5:c.18_21delinsGGCA MANE Select	NP_653200.2:p.Ala6=