Canonical Allele Identifier: CA607383781
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1015191818
gnomAD v2: 12-102224691-C-CGAGGCGGCCGGCGCCGCCCGGGTCTGGCCGGGCGA
gnomAD v3: 12-101830913-C-CGAGGCGGCCGGCGCCGCCCGGGTCTGGCCGGGCGA
gnomAD v4: 12-101830913-C-CGAGGCGGCCGGCGCCGCCCGGGTCTGGCCGGGCGA
MyVariant Identifiers: chr12:g.102224691_102224692insGAGGCGGCCGGCGCCGCCCGGGTCTGGCCGGGCGA (hg19) chr12:g.101830913_101830914insGAGGCGGCCGGCGCCGCCCGGGTCTGGCCGGGCGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830922_101830956dup , CM000674.2:g.101830922_101830956dup GRCh38
NC_000012.11:g.102224700_102224734dup , CM000674.1:g.102224700_102224734dup GRCh37
NC_000012.10:g.100748831_100748865dup NCBI36
NG_021243.1:g.4920_4954dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-273_-239dup MANE Select ENSP00000299314.7:n.-273_-239dup
NM_024312.5:c.-273_-239dup MANE Select NP_077288.2:n.-273_-239dup
Search 100 bp 5'
Search 100 bp 3'