Canonical Allele Identifier: CA6746695
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 991285
dbSNP Id: rs758859457

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770205_101770207del , CM000674.2:g.101770205_101770207del GRCh38
NC_000012.11:g.102163983_102163985del , CM000674.1:g.102163983_102163985del GRCh37
NC_000012.10:g.100688114_100688116del NCBI36
NG_021243.1:g.65669_65671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1114-8_1114-6del MANE Select ENSP00000299314.7:n.1114-8_1114-6del
ENST00000299314.11:c.1114-8_1114-6del ENSP00000299314.7:n.1114-8_1114-6del
ENST00000549940.5:c.1114-8_1114-6del ENSP00000449150.1:n.1114-8_1114-6del
NM_024312.4:c.1114-8_1114-6del NP_077288.2:n.1114-8_1114-6del
XM_006719593.2:c.1114-8_1114-6del XP_006719656.1:n.1114-8_1114-6del
XM_011538731.1:c.1033-8_1033-6del XP_011537033.1:n.1033-8_1033-6del
XM_006719593.3:c.1114-8_1114-6del XP_006719656.1:n.1114-8_1114-6del
XM_011538731.2:c.1033-8_1033-6del XP_011537033.1:n.1033-8_1033-6del
XM_017019961.1:c.898-8_898-6del XP_016875450.1:n.898-8_898-6del
XM_017019962.2:c.-114-8_-114-6del XP_016875451.1:n.-114-8_-114-6del
NM_024312.5:c.1114-8_1114-6del MANE Select NP_077288.2:n.1114-8_1114-6del