Canonical Allele Identifier: CA2058985367

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830907_101830925delinsGGCCGGCGAGGCGGCCGGC , CM000674.2:g.101830907_101830925delinsGGCCGGCGAGGCGGCCGGC	GRCh38
NC_000012.11:g.102224685_102224703delinsGGCCGGCGAGGCGGCCGGC , CM000674.1:g.102224685_102224703delinsGGCCGGCGAGGCGGCCGGC	GRCh37
NC_000012.10:g.100748816_100748834delinsGGCCGGCGAGGCGGCCGGC	NCBI36
NG_021243.1:g.4943_4961delinsGCCGGCCGCCTCGCCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-250_-232delinsGCCGGCCGCCTCGCCGGCC MANE Select	ENSP00000299314.7:n.-250_-232delinsGCCGGCCGCCTCGCCGGCC
ENST00000299314.11:c.-250_-232delinsGCCGGCCGCCTCGCCGGCC	ENSP00000299314.7:n.-250_-232delinsGCCGGCCGCCTCGCCGGCC
NM_024312.5:c.-250_-232delinsGCCGGCCGCCTCGCCGGCC MANE Select	NP_077288.2:n.-250_-232delinsGCCGGCCGCCTCGCCGGCC