Canonical Allele Identifier: CA200621

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 193495
• ClinVar RCV Id: RCV000173568 ; RCV000206798 ; RCV000272705 ; RCV001573571
• dbSNP Id: rs531550505
• ExAC: 15:23086364 GGCC / G
• gnomAD v2: 15-23086364-GGCC-G
• gnomAD v3: 15-22786677-AGCG-A
• gnomAD v4: 15-22786677-AGCG-A
• COSMIC: COSM1608160
• MyVariant Identifiers: chr15:g.23086383_23086385del (hg19) ; chr15:g.23086371_23086373del (hg19) ; chr15:g.23086365_23086367del (hg19) ; chr15:g.22786701_22786703del (hg38) ; chr15:g.22786678_22786680del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786701_22786703del , CM000677.2:g.22786701_22786703del	GRCh38
NC_000015.9:g.23086388_23086390del , CM000677.1:g.23086388_23086390del	GRCh37
NC_000015.8:g.20637829_20637831del	NCBI36
NG_009056.1:g.5477_5479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.45_47del MANE Select	ENSP00000337452.4:p.Ala16del
ENST00000337435.8:c.45_47del	ENSP00000337452.4:p.Ala16del
ENST00000437912.6:c.-48+12388_-48+12390del	ENSP00000393962.2:n.-48+12388_-48+12390del
ENST00000560069.5:n.31+453_31+455del
ENST00000561183.5:c.-48+453_-48+455del	ENSP00000453722.1:n.-48+453_-48+455del
NM_001142275.1:c.-48+453_-48+455del	NP_001135747.1:n.-48+453_-48+455del
NM_144599.4:c.45_47del	NP_653200.2:p.Ala16del
NM_144599.5:c.45_47del MANE Select	NP_653200.2:p.Ala16del