Canonical Allele Identifier: CA242320069
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs552378173
gnomAD v2: 12-102224681-CTGCGGCCGGCGA-C
gnomAD v3: 12-101830903-CTGCGGCCGGCGA-C
gnomAD v4: 12-101830903-CTGCGGCCGGCGA-C
MyVariant Identifiers: chr12:g.102224682_102224693del (hg19) chr12:g.101830904_101830915del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830904_101830915del , CM000674.2:g.101830904_101830915del GRCh38
NC_000012.11:g.102224682_102224693del , CM000674.1:g.102224682_102224693del GRCh37
NC_000012.10:g.100748813_100748824del NCBI36
NG_021243.1:g.4953_4964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-240_-229del MANE Select ENSP00000299314.7:n.-240_-229del
ENST00000299314.11:c.-240_-229del ENSP00000299314.7:n.-240_-229del
NM_024312.5:c.-240_-229del MANE Select NP_077288.2:n.-240_-229del
Search 100 bp 5'
Search 100 bp 3'