Canonical Allele Identifier: CA682739878
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1246337443
gnomAD v4: 12-101786295-AT-A
MyVariant Identifiers: chr12:g.102180074del (hg19) chr12:g.101786296del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786300del , CM000674.2:g.101786300del GRCh38
NC_000012.11:g.102180078del , CM000674.1:g.102180078del GRCh37
NC_000012.10:g.100704209del NCBI36
NG_021243.1:g.49572del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.366-79del MANE Select ENSP00000299314.7:n.366-79del
ENST00000299314.11:c.366-79del ENSP00000299314.7:n.366-79del
ENST00000549940.5:c.366-79del ENSP00000449150.1:n.366-79del
ENST00000550352.1:n.160-79del
NM_024312.4:c.366-79del NP_077288.2:n.366-79del
XM_006719593.2:c.366-79del XP_006719656.1:n.366-79del
XM_011538731.1:c.285-79del XP_011537033.1:n.285-79del
XM_006719593.3:c.366-79del XP_006719656.1:n.366-79del
XM_011538731.2:c.285-79del XP_011537033.1:n.285-79del
XM_017019961.1:c.150-79del XP_016875450.1:n.150-79del
XM_017019962.2:c.-985-79del XP_016875451.1:n.-985-79del
NM_024312.5:c.366-79del MANE Select NP_077288.2:n.366-79del
Search 100 bp 5'
Search 100 bp 3'