Canonical Allele Identifier: CA2058985382

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830917_101830927delinsGCGGCCGGCGC , CM000674.2:g.101830917_101830927delinsGCGGCCGGCGC	GRCh38
NC_000012.11:g.102224695_102224705delinsGCGGCCGGCGC , CM000674.1:g.102224695_102224705delinsGCGGCCGGCGC	GRCh37
NC_000012.10:g.100748826_100748836delinsGCGGCCGGCGC	NCBI36
NG_021243.1:g.4941_4951delinsGCGCCGGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-252_-242delinsGCGCCGGCCGC MANE Select	ENSP00000299314.7:n.-252_-242delinsGCGCCGGCCGC
ENST00000299314.11:c.-252_-242delinsGCGCCGGCCGC	ENSP00000299314.7:n.-252_-242delinsGCGCCGGCCGC
NM_024312.5:c.-252_-242delinsGCGCCGGCCGC MANE Select	NP_077288.2:n.-252_-242delinsGCGCCGGCCGC