Canonical Allele Identifier: CA682766074
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1489395745
gnomAD v3: 12-101830869-G-GGGAGCCC
gnomAD v4: 12-101830869-G-GGGAGCCC
MyVariant Identifiers: chr12:g.102224647_102224648insGGAGCCC (hg19) chr12:g.101830869_101830870insGGAGCCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830870_101830876dup , CM000674.2:g.101830870_101830876dup GRCh38
NC_000012.11:g.102224648_102224654dup , CM000674.1:g.102224648_102224654dup GRCh37
NC_000012.10:g.100748779_100748785dup NCBI36
NG_021243.1:g.4992_4998dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-201_-195dup MANE Select ENSP00000299314.7:n.-201_-195dup
ENST00000299314.11:c.-201_-195dup ENSP00000299314.7:n.-201_-195dup
NM_024312.5:c.-201_-195dup MANE Select NP_077288.2:n.-201_-195dup
Search 100 bp 5'
Search 100 bp 3'