Canonical Allele Identifier: CA16609429
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 397561
ClinVar RCV Id: RCV000449625
dbSNP Id: rs1060499681
MyVariant Identifiers: chr12:g.102158081del (hg19) chr12:g.101764303del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764303del , CM000674.2:g.101764303del GRCh38
NC_000012.11:g.102158081del , CM000674.1:g.102158081del GRCh37
NC_000012.10:g.100682212del NCBI36
NG_021243.1:g.71565del

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.2614del MANE Select ENSP00000299314.7:p.Val872LeufsTer?
ENST00000299314.11:c.2614del ENSP00000299314.7:p.Val872LeufsTer?
NM_024312.4:c.2614del NP_077288.2:p.Val872LeufsTer?
XM_006719593.2:c.2614del XP_006719656.1:p.Val872LeufsTer?
XM_011538731.1:c.2533del XP_011537033.1:p.Val845LeufsTer?
XM_006719593.3:c.2614del XP_006719656.1:p.Val872LeufsTer?
XM_011538731.2:c.2533del XP_011537033.1:p.Val845LeufsTer?
XM_017019961.1:c.2398del XP_016875450.1:p.Val800LeufsTer?
XM_017019962.2:c.1387del XP_016875451.1:p.Val463LeufsTer?
NM_024312.5:c.2614del MANE Select NP_077288.2:p.Val872LeufsTer?
Search 100 bp 5'
Search 100 bp 3'