Canonical Allele Identifier: CA223755
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2771
ClinVar RCV Id: RCV000002899 RCV000002900 RCV000082192 RCV000380090 RCV000623507 RCV000678389
dbSNP Id: rs34002892
ExAC: 12:102147247 TGA / T
gnomAD v2: 12-102147247-TGA-T
gnomAD v3: 12-101753469-TGA-T
gnomAD v4: 12-101753469-TGA-T
MyVariant Identifiers: chr12:g.102147248_102147249del (hg19) chr12:g.102147248_102147249delGA (hg19) chr12:g.101753471_101753472del (hg38) chr12:g.101753470_101753471del (hg38)
PubMed: PMID:16200072 PMID:16465621 PMID:16630736 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:20147709 PMID:20301728 PMID:20301730 PMID:20367762 PMID:20880125 PMID:23192343 PMID:23566849 PMID:24375680 PMID:24685522 PMID:25788519 PMID:26749367
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753472_101753473del , CM000674.2:g.101753472_101753473del GRCh38
NC_000012.11:g.102147250_102147251del , CM000674.1:g.102147250_102147251del GRCh37
NC_000012.10:g.100671381_100671382del NCBI36
NG_021243.1:g.82397_82398del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3503_3504del MANE Select ENSP00000299314.7:p.Leu1168GlnfsTer5
ENST00000299314.11:c.3503_3504del ENSP00000299314.7:p.Leu1168GlnfsTer5
ENST00000549738.5:c.401_402del ENSP00000450161.1:n.401_402del
NM_024312.4:c.3503_3504del NP_077288.2:p.Leu1168GlnfsTer5
XM_011538731.1:c.3422_3423del XP_011537033.1:p.Leu1141GlnfsTer5
XM_011538731.2:c.3422_3423del XP_011537033.1:p.Leu1141GlnfsTer5
XM_017019961.1:c.3287_3288del XP_016875450.1:p.Leu1096GlnfsTer5
XM_017019962.2:c.2276_2277del XP_016875451.1:p.Leu759GlnfsTer5
NM_024312.5:c.3503_3504del MANE Select NP_077288.2:p.Leu1168GlnfsTer5
Search 100 bp 5'
Search 100 bp 3'