Canonical Allele Identifier: CA682766188
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1180868205

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830920_101830929del , CM000674.2:g.101830920_101830929del GRCh38
NC_000012.11:g.102224698_102224707del , CM000674.1:g.102224698_102224707del GRCh37
NC_000012.10:g.100748829_100748838del NCBI36
NG_021243.1:g.4941_4950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-252_-243del MANE Select ENSP00000299314.7:n.-252_-243del
ENST00000299314.11:c.-252_-243del ENSP00000299314.7:n.-252_-243del
NM_024312.5:c.-252_-243del MANE Select NP_077288.2:n.-252_-243del