Canonical Allele Identifier: CA2575264866
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101757164del , CM000674.2:g.101757164del GRCh38
NC_000012.11:g.102150942del , CM000674.1:g.102150942del GRCh37
NC_000012.10:g.100675073del NCBI36
NG_021243.1:g.78707del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3434+51del MANE Select ENSP00000299314.7:n.3434+51del
ENST00000299314.11:c.3434+51del ENSP00000299314.7:n.3434+51del
ENST00000549194.1:n.351del
ENST00000549738.5:c.185+51del ENSP00000450161.1:n.185+51del
ENST00000550718.1:c.246+51del
NM_024312.4:c.3434+51del NP_077288.2:n.3434+51del
XM_006719593.2:c.3434+51del XP_006719656.1:n.3434+51del
XM_011538731.1:c.3353+51del XP_011537033.1:n.3353+51del
XM_006719593.3:c.3434+51del XP_006719656.1:n.3434+51del
XM_011538731.2:c.3353+51del XP_011537033.1:n.3353+51del
XM_017019961.1:c.3218+51del XP_016875450.1:n.3218+51del
XM_017019962.2:c.2207+51del XP_016875451.1:n.2207+51del
NM_024312.5:c.3434+51del MANE Select NP_077288.2:n.3434+51del