Canonical Allele Identifier: CA2058964906
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786292_101786293delinsTA , CM000674.2:g.101786292_101786293delinsTA GRCh38
NC_000012.11:g.102180070_102180071delinsTA , CM000674.1:g.102180070_102180071delinsTA GRCh37
NC_000012.10:g.100704201_100704202delinsTA NCBI36
NG_021243.1:g.49575_49576delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.366-76_366-75delinsTA MANE Select ENSP00000299314.7:n.366-76_366-75delinsTA
ENST00000299314.11:c.366-76_366-75delinsTA ENSP00000299314.7:n.366-76_366-75delinsTA
ENST00000549940.5:c.366-76_366-75delinsTA ENSP00000449150.1:n.366-76_366-75delinsTA
ENST00000550352.1:n.160-76_160-75delinsTA
NM_024312.4:c.366-76_366-75delinsTA NP_077288.2:n.366-76_366-75delinsTA
XM_006719593.2:c.366-76_366-75delinsTA XP_006719656.1:n.366-76_366-75delinsTA
XM_011538731.1:c.285-76_285-75delinsTA XP_011537033.1:n.285-76_285-75delinsTA
XM_006719593.3:c.366-76_366-75delinsTA XP_006719656.1:n.366-76_366-75delinsTA
XM_011538731.2:c.285-76_285-75delinsTA XP_011537033.1:n.285-76_285-75delinsTA
XM_017019961.1:c.150-76_150-75delinsTA XP_016875450.1:n.150-76_150-75delinsTA
XM_017019962.2:c.-985-76_-985-75delinsTA XP_016875451.1:n.-985-76_-985-75delinsTA
NM_024312.5:c.366-76_366-75delinsTA MANE Select NP_077288.2:n.366-76_366-75delinsTA