Canonical Allele Identifier: CA607383776
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1555277165
gnomAD v2: 12-102224682-T-TGCGGCCGGCGAG
gnomAD v3: 12-101830904-T-TGCGGCCGGCGAG
gnomAD v4: 12-101830904-T-TGCGGCCGGCGAG
MyVariant Identifiers: chr12:g.102224682_102224683insGCGGCCGGCGAG (hg19) chr12:g.101830904_101830905insGCGGCCGGCGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830915_101830926dup , CM000674.2:g.101830915_101830926dup GRCh38
NC_000012.11:g.102224693_102224704dup , CM000674.1:g.102224693_102224704dup GRCh37
NC_000012.10:g.100748824_100748835dup NCBI36
NG_021243.1:g.4952_4963dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-241_-230dup MANE Select ENSP00000299314.7:n.-241_-230dup
ENST00000299314.11:c.-241_-230dup ENSP00000299314.7:n.-241_-230dup
NM_024312.5:c.-241_-230dup MANE Select NP_077288.2:n.-241_-230dup
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