Canonical Allele Identifier: CA2058964877
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786227_101786229delinsAAC , CM000674.2:g.101786227_101786229delinsAAC GRCh38
NC_000012.11:g.102180005_102180007delinsAAC , CM000674.1:g.102180005_102180007delinsAAC GRCh37
NC_000012.10:g.100704136_100704138delinsAAC NCBI36
NG_021243.1:g.49639_49641delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.366-12_366-10delinsGTT MANE Select ENSP00000299314.7:n.366-12_366-10delinsGTT
ENST00000299314.11:c.366-12_366-10delinsGTT ENSP00000299314.7:n.366-12_366-10delinsGTT
ENST00000549940.5:c.366-12_366-10delinsGTT ENSP00000449150.1:n.366-12_366-10delinsGTT
ENST00000550352.1:n.160-12_160-10delinsGTT
NM_024312.4:c.366-12_366-10delinsGTT NP_077288.2:n.366-12_366-10delinsGTT
XM_006719593.2:c.366-12_366-10delinsGTT XP_006719656.1:n.366-12_366-10delinsGTT
XM_011538731.1:c.285-12_285-10delinsGTT XP_011537033.1:n.285-12_285-10delinsGTT
XM_006719593.3:c.366-12_366-10delinsGTT XP_006719656.1:n.366-12_366-10delinsGTT
XM_011538731.2:c.285-12_285-10delinsGTT XP_011537033.1:n.285-12_285-10delinsGTT
XM_017019961.1:c.150-12_150-10delinsGTT XP_016875450.1:n.150-12_150-10delinsGTT
XM_017019962.2:c.-985-12_-985-10delinsGTT XP_016875451.1:n.-985-12_-985-10delinsGTT
NM_024312.5:c.366-12_366-10delinsGTT MANE Select NP_077288.2:n.366-12_366-10delinsGTT