Canonical Allele Identifier: CA682766177
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1432976175
gnomAD v3: 12-101830915-A-AGGCGGCCGGCGC
gnomAD v4: 12-101830915-A-AGGCGGCCGGCGC
MyVariant Identifiers: chr12:g.102224693_102224694insGGCGGCCGGCGC (hg19) chr12:g.101830915_101830916insGGCGGCCGGCGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830916_101830927dup , CM000674.2:g.101830916_101830927dup GRCh38
NC_000012.11:g.102224694_102224705dup , CM000674.1:g.102224694_102224705dup GRCh37
NC_000012.10:g.100748825_100748836dup NCBI36
NG_021243.1:g.4941_4952dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-252_-241dup MANE Select ENSP00000299314.7:n.-252_-241dup
ENST00000299314.11:c.-252_-241dup ENSP00000299314.7:n.-252_-241dup
NM_024312.5:c.-252_-241dup MANE Select NP_077288.2:n.-252_-241dup
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