Canonical Allele Identifier: CA2058953287
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1953001354

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761769_101761770del , CM000674.2:g.101761769_101761770del GRCh38
NC_000012.11:g.102155547_102155548del , CM000674.1:g.102155547_102155548del GRCh37
NC_000012.10:g.100679678_100679679del NCBI36
NG_021243.1:g.74100_74101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2716-5_2716-4del MANE Select ENSP00000299314.7:n.2716-5_2716-4del
ENST00000299314.11:c.2716-5_2716-4del ENSP00000299314.7:n.2716-5_2716-4del
NM_024312.4:c.2716-5_2716-4del NP_077288.2:n.2716-5_2716-4del
XM_006719593.2:c.2716-5_2716-4del XP_006719656.1:n.2716-5_2716-4del
XM_011538731.1:c.2635-5_2635-4del XP_011537033.1:n.2635-5_2635-4del
XM_006719593.3:c.2716-5_2716-4del XP_006719656.1:n.2716-5_2716-4del
XM_011538731.2:c.2635-5_2635-4del XP_011537033.1:n.2635-5_2635-4del
XM_017019961.1:c.2500-5_2500-4del XP_016875450.1:n.2500-5_2500-4del
XM_017019962.2:c.1489-5_1489-4del XP_016875451.1:n.1489-5_1489-4del
NM_024312.5:c.2716-5_2716-4del MANE Select NP_077288.2:n.2716-5_2716-4del