Canonical Allele Identifier: CA16609424
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753525del , CM000674.2:g.101753525del GRCh38
NC_000012.11:g.102147303del , CM000674.1:g.102147303del GRCh37
NC_000012.10:g.100671434del NCBI36
NG_021243.1:g.82343del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3449del MANE Select ENSP00000299314.7:p.Leu1150ArgfsTer15
ENST00000299314.11:c.3449del ENSP00000299314.7:p.Leu1150ArgfsTer15
ENST00000549738.5:c.347del ENSP00000450161.1:n.347del
NM_024312.4:c.3449del NP_077288.2:p.Leu1150ArgfsTer15
XM_011538731.1:c.3368del XP_011537033.1:p.Leu1123ArgfsTer15
XM_011538731.2:c.3368del XP_011537033.1:p.Leu1123ArgfsTer15
XM_017019961.1:c.3233del XP_016875450.1:p.Leu1078ArgfsTer15
XM_017019962.2:c.2222del XP_016875451.1:p.Leu741ArgfsTer15
NM_024312.5:c.3449del MANE Select NP_077288.2:p.Leu1150ArgfsTer15
Search 100 bp 5'
Search 100 bp 3'