Canonical Allele Identifier: CA343403
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39076
ClinVar RCV Id: RCV000032342
dbSNP Id: rs281865020
gnomAD v2: 12-102147261-ACTGT-A
gnomAD v4: 12-101753483-ACTGT-A
MyVariant Identifiers: chr12:g.102147262_102147265del (hg19) chr12:g.101753484_101753487del (hg38)
PubMed: PMID:19634183 PMID:20301728
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753487_101753490del , CM000674.2:g.101753487_101753490del GRCh38
NC_000012.11:g.102147265_102147268del , CM000674.1:g.102147265_102147268del GRCh37
NC_000012.10:g.100671396_100671399del NCBI36
NG_021243.1:g.82381_82384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3487_3490del MANE Select ENSP00000299314.7:p.Thr1163Ter
ENST00000299314.11:c.3487_3490del ENSP00000299314.7:p.Thr1163Ter
ENST00000549738.5:c.385_388del ENSP00000450161.1:n.385_388del
NM_024312.4:c.3487_3490del NP_077288.2:p.Thr1163Ter
XM_011538731.1:c.3406_3409del XP_011537033.1:p.Thr1136Ter
XM_011538731.2:c.3406_3409del XP_011537033.1:p.Thr1136Ter
XM_017019961.1:c.3271_3274del XP_016875450.1:p.Thr1091Ter
XM_017019962.2:c.2260_2263del XP_016875451.1:p.Thr754Ter
NM_024312.5:c.3487_3490del MANE Select NP_077288.2:p.Thr1163Ter
Search 100 bp 5'
Search 100 bp 3'