Canonical Allele Identifier: CA16609431
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 397567
ClinVar RCV Id: RCV000449502
dbSNP Id: rs1060499685
MyVariant Identifiers: chr12:g.102158325_102158326del (hg19) chr12:g.101764547_101764548del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764549_101764550del , CM000674.2:g.101764549_101764550del GRCh38
NC_000012.11:g.102158327_102158328del , CM000674.1:g.102158327_102158328del GRCh37
NC_000012.10:g.100682458_100682459del NCBI36
NG_021243.1:g.71320_71321del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.2369_2370del MANE Select ENSP00000299314.7:p.Phe790SerfsTer11
ENST00000299314.11:c.2369_2370del ENSP00000299314.7:p.Phe790SerfsTer11
NM_024312.4:c.2369_2370del NP_077288.2:p.Phe790SerfsTer11
XM_006719593.2:c.2369_2370del XP_006719656.1:p.Phe790SerfsTer11
XM_011538731.1:c.2288_2289del XP_011537033.1:p.Phe763SerfsTer11
XM_006719593.3:c.2369_2370del XP_006719656.1:p.Phe790SerfsTer11
XM_011538731.2:c.2288_2289del XP_011537033.1:p.Phe763SerfsTer11
XM_017019961.1:c.2153_2154del XP_016875450.1:p.Phe718SerfsTer11
XM_017019962.2:c.1142_1143del XP_016875451.1:p.Phe381SerfsTer11
NM_024312.5:c.2369_2370del MANE Select NP_077288.2:p.Phe790SerfsTer11
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