Canonical Allele Identifier: CA2803368734
Gene: NIPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786636_22786637del , CM000677.2:g.22786636_22786637del GRCh38
NC_000015.9:g.23086431_23086432del , CM000677.1:g.23086431_23086432del GRCh37
NC_000015.8:g.20637872_20637873del NCBI36
NG_009056.1:g.5412_5413del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.8:c.-21_-20del ENSP00000337452.4:n.-21_-20del
ENST00000437912.6:c.-48+12323_-48+12324del ENSP00000393962.2:n.-48+12323_-48+12324del
ENST00000560069.5:n.31+388_31+389del
ENST00000561183.5:c.-48+388_-48+389del ENSP00000453722.1:n.-48+388_-48+389del
NM_001142275.1:c.-48+388_-48+389del NP_001135747.1:n.-48+388_-48+389del
NM_144599.4:c.-21_-20del NP_653200.2:n.-21_-20del