Canonical Allele Identifier: CA2058964911
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786295_101786296delinsAT , CM000674.2:g.101786295_101786296delinsAT GRCh38
NC_000012.11:g.102180073_102180074delinsAT , CM000674.1:g.102180073_102180074delinsAT GRCh37
NC_000012.10:g.100704204_100704205delinsAT NCBI36
NG_021243.1:g.49572_49573delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.366-79_366-78delinsAT MANE Select ENSP00000299314.7:n.366-79_366-78delinsAT
ENST00000299314.11:c.366-79_366-78delinsAT ENSP00000299314.7:n.366-79_366-78delinsAT
ENST00000549940.5:c.366-79_366-78delinsAT ENSP00000449150.1:n.366-79_366-78delinsAT
ENST00000550352.1:n.160-79_160-78delinsAT
NM_024312.4:c.366-79_366-78delinsAT NP_077288.2:n.366-79_366-78delinsAT
XM_006719593.2:c.366-79_366-78delinsAT XP_006719656.1:n.366-79_366-78delinsAT
XM_011538731.1:c.285-79_285-78delinsAT XP_011537033.1:n.285-79_285-78delinsAT
XM_006719593.3:c.366-79_366-78delinsAT XP_006719656.1:n.366-79_366-78delinsAT
XM_011538731.2:c.285-79_285-78delinsAT XP_011537033.1:n.285-79_285-78delinsAT
XM_017019961.1:c.150-79_150-78delinsAT XP_016875450.1:n.150-79_150-78delinsAT
XM_017019962.2:c.-985-79_-985-78delinsAT XP_016875451.1:n.-985-79_-985-78delinsAT
NM_024312.5:c.366-79_366-78delinsAT MANE Select NP_077288.2:n.366-79_366-78delinsAT