Canonical Allele Identifier: CA919160021
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs398055890

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830735_101830736dup , CM000674.2:g.101830735_101830736dup GRCh38
NC_000012.11:g.102224513_102224514dup , CM000674.1:g.102224513_102224514dup GRCh37
NC_000012.10:g.100748644_100748645dup NCBI36
NG_021243.1:g.5133_5134dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-60_-59dup MANE Select ENSP00000299314.7:n.-60_-59dup
ENST00000299314.11:c.-60_-59dup ENSP00000299314.7:n.-60_-59dup
ENST00000392919.4:c.-60_-59dup ENSP00000376651.4:n.-60_-59dup
ENST00000549940.5:c.-60_-59dup ENSP00000449150.1:n.-60_-59dup
NM_024312.4:c.-60_-59dup NP_077288.2:n.-60_-59dup
XM_006719593.2:c.-60_-59dup XP_006719656.1:n.-60_-59dup
XM_006719593.3:c.-60_-59dup XP_006719656.1:n.-60_-59dup
XM_017019961.1:c.-209_-208dup XP_016875450.1:n.-209_-208dup
XM_017019962.2:c.-1410_-1409dup XP_016875451.1:n.-1410_-1409dup
NM_024312.5:c.-60_-59dup MANE Select NP_077288.2:n.-60_-59dup