Canonical Allele Identifier: CA2695217189
Gene: GNPTAB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753408_101753409insT , CM000674.2:g.101753408_101753409insT GRCh38
NC_000012.11:g.102147186_102147187insT , CM000674.1:g.102147186_102147187insT GRCh37
NC_000012.10:g.100671317_100671318insT NCBI36
NG_021243.1:g.82459_82460insA

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3565_3566insA MANE Select ENSP00000299314.7:p.Arg1189GlnfsTer9
ENST00000299314.11:c.3565_3566insA ENSP00000299314.7:p.Arg1189GlnfsTer9
ENST00000549738.5:c.463_464insA ENSP00000450161.1:n.463_464insA
NM_024312.4:c.3565_3566insA NP_077288.2:p.Arg1189GlnfsTer9
XM_011538731.1:c.3484_3485insA XP_011537033.1:p.Arg1162GlnfsTer9
XM_011538731.2:c.3484_3485insA XP_011537033.1:p.Arg1162GlnfsTer9
XM_017019961.1:c.3349_3350insA XP_016875450.1:p.Arg1117GlnfsTer9
XM_017019962.2:c.2338_2339insA XP_016875451.1:p.Arg780GlnfsTer9
NM_024312.5:c.3565_3566insA MANE Select NP_077288.2:p.Arg1189GlnfsTer9
Search 100 bp 5'
Search 100 bp 3'