Canonical Allele Identifier: CA16609426
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 397570
ClinVar RCV Id: RCV000449494
dbSNP Id: rs1060499687

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101757657_101757658delinsAT , CM000674.2:g.101757657_101757658delinsAT GRCh38
NC_000012.11:g.102151435_102151436delinsAT , CM000674.1:g.102151435_102151436delinsAT GRCh37
NC_000012.10:g.100675566_100675567delinsAT NCBI36
NG_021243.1:g.78210_78211delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3250-1_3250delinsAT
ENST00000299314.11:c.3250-1_3250delinsAT
ENST00000549194.1:n.116-1_116delinsAT
ENST00000550718.1:c.62-1_62delinsAT
NM_024312.4:c.3250-1_3250delinsAT
XM_006719593.2:c.3250-1_3250delinsAT
XM_011538731.1:c.3169-1_3169delinsAT
XM_006719593.3:c.3250-1_3250delinsAT
XM_011538731.2:c.3169-1_3169delinsAT
XM_017019961.1:c.3034-1_3034delinsAT
XM_017019962.2:c.2023-1_2023delinsAT
NM_024312.5:c.3250-1_3250delinsAT