Canonical Allele Identifier: CA2627249197

Gene: NIPA1

Linked Data

• gnomAD v4: 15-22786701-GGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786703_22786705del , CM000677.2:g.22786703_22786705del	GRCh38
NC_000015.9:g.23086364_23086366del , CM000677.1:g.23086364_23086366del	GRCh37
NC_000015.8:g.20637805_20637807del	NCBI36
NG_009056.1:g.5479_5481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.47_49del MANE Select	ENSP00000337452.4:p.Ala16del
ENST00000337435.8:c.47_49del	ENSP00000337452.4:p.Ala16del
ENST00000437912.6:c.-48+12390_-48+12392del	ENSP00000393962.2:n.-48+12390_-48+12392del
ENST00000560069.5:n.31+455_31+457del
ENST00000561183.5:c.-48+455_-48+457del	ENSP00000453722.1:n.-48+455_-48+457del
NM_001142275.1:c.-48+455_-48+457del	NP_001135747.1:n.-48+455_-48+457del
NM_144599.4:c.47_49del	NP_653200.2:p.Ala16del
NM_144599.5:c.47_49del MANE Select	NP_653200.2:p.Ala16del