Canonical Allele Identifier: CA607383735
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1380479425
gnomAD v2: 12-102224637-T-TCCGGGAG
gnomAD v3: 12-101830859-T-TCCGGGAG
gnomAD v4: 12-101830859-T-TCCGGGAG
MyVariant Identifiers: chr12:g.102224637_102224638insCCGGGAG (hg19) chr12:g.101830859_101830860insCCGGGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830869_101830875dup , CM000674.2:g.101830869_101830875dup GRCh38
NC_000012.11:g.102224647_102224653dup , CM000674.1:g.102224647_102224653dup GRCh37
NC_000012.10:g.100748778_100748784dup NCBI36
NG_021243.1:g.5002_5008dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-191_-185dup MANE Select ENSP00000299314.7:n.-191_-185dup
ENST00000299314.11:c.-191_-185dup ENSP00000299314.7:n.-191_-185dup
NM_024312.5:c.-191_-185dup MANE Select NP_077288.2:n.-191_-185dup
Search 100 bp 5'
Search 100 bp 3'