Canonical Allele Identifier: CA951191021
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1555277165
gnomAD v3: 12-101830904-TGCGGCCGGCGAG-T
gnomAD v4: 12-101830904-TGCGGCCGGCGAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830915_101830926del , CM000674.2:g.101830915_101830926del GRCh38
NC_000012.11:g.102224693_102224704del , CM000674.1:g.102224693_102224704del GRCh37
NC_000012.10:g.100748824_100748835del NCBI36
NG_021243.1:g.4952_4963del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-241_-230del MANE Select ENSP00000299314.7:n.-241_-230del
ENST00000299314.11:c.-241_-230del ENSP00000299314.7:n.-241_-230del
NM_024312.5:c.-241_-230del MANE Select NP_077288.2:n.-241_-230del
Search 100 bp 5'
Search 100 bp 3'