Canonical Allele Identifier: CA223755

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2771
• ClinVar RCV Id: RCV000002899 ; RCV000002900 ; RCV000082192 ; RCV000623507 ; RCV000678389 ; RCV004528069
• 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

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