Canonical Allele Identifier: CA682766178
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1361850446
gnomAD v3: 12-101830916-G-GGCGGCCGGCGCC
gnomAD v4: 12-101830916-G-GGCGGCCGGCGCC
MyVariant Identifiers: chr12:g.102224694_102224695insGCGGCCGGCGCC (hg19) chr12:g.101830916_101830917insGCGGCCGGCGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830919_101830930dup , CM000674.2:g.101830919_101830930dup GRCh38
NC_000012.11:g.102224697_102224708dup , CM000674.1:g.102224697_102224708dup GRCh37
NC_000012.10:g.100748828_100748839dup NCBI36
NG_021243.1:g.4940_4951dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-253_-242dup MANE Select ENSP00000299314.7:n.-253_-242dup
ENST00000299314.11:c.-253_-242dup ENSP00000299314.7:n.-253_-242dup
NM_024312.5:c.-253_-242dup MANE Select NP_077288.2:n.-253_-242dup
Search 100 bp 5'
Search 100 bp 3'