Canonical Allele Identifier: CA343364
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39044
ClinVar RCV Id: RCV000032309
dbSNP Id: rs281864986
MyVariant Identifiers: chr12:g.102158695_102158696insA (hg19) chr12:g.101764917_101764918insA (hg38)
PubMed: PMID:19617216 PMID:20301728
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764917_101764918insA , CM000674.2:g.101764917_101764918insA GRCh38
NC_000012.11:g.102158695_102158696insA , CM000674.1:g.102158695_102158696insA GRCh37
NC_000012.10:g.100682826_100682827insA NCBI36
NG_021243.1:g.70950_70951insT

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.1999_2000insT MANE Select ENSP00000299314.7:p.Glu667ValfsTer13
ENST00000299314.11:c.1999_2000insT ENSP00000299314.7:p.Glu667ValfsTer13
NM_024312.4:c.1999_2000insT NP_077288.2:p.Glu667ValfsTer13
XM_006719593.2:c.1999_2000insT XP_006719656.1:p.Glu667ValfsTer13
XM_011538731.1:c.1918_1919insT XP_011537033.1:p.Glu640ValfsTer13
XM_006719593.3:c.1999_2000insT XP_006719656.1:p.Glu667ValfsTer13
XM_011538731.2:c.1918_1919insT XP_011537033.1:p.Glu640ValfsTer13
XM_017019961.1:c.1783_1784insT XP_016875450.1:p.Glu595ValfsTer13
XM_017019962.2:c.772_773insT XP_016875451.1:p.Glu258ValfsTer13
NM_024312.5:c.1999_2000insT MANE Select NP_077288.2:p.Glu667ValfsTer13
Search 100 bp 5'
Search 100 bp 3'