Canonical Allele Identifier: CA242320079
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs951960936
gnomAD v3: 12-101830904-T-TGCGGCCGGGGAG
gnomAD v4: 12-101830904-T-TGCGGCCGGGGAG
MyVariant Identifiers: chr12:g.102224682_102224683insGCGGCCGGGGAG (hg19) chr12:g.101830904_101830905insGCGGCCGGGGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830912_101830913insGGAGGCGGCCGG , CM000674.2:g.101830912_101830913insGGAGGCGGCCGG GRCh38
NC_000012.11:g.102224690_102224691insGGAGGCGGCCGG , CM000674.1:g.102224690_102224691insGGAGGCGGCCGG GRCh37
NC_000012.10:g.100748821_100748822insGGAGGCGGCCGG NCBI36
NG_021243.1:g.4963_4964insCTCCCCGGCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-230_-229insCTCCCCGGCCGC MANE Select ENSP00000299314.7:n.-230_-229insCTCCCCGGCCGC
ENST00000299314.11:c.-230_-229insCTCCCCGGCCGC ENSP00000299314.7:n.-230_-229insCTCCCCGGCCGC
NM_024312.5:c.-230_-229insCTCCCCGGCCGC MANE Select NP_077288.2:n.-230_-229insCTCCCCGGCCGC
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