Canonical Allele Identifier: CA2058985211

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830713_101830725delinsAGCCGCCGCCGCC , CM000674.2:g.101830713_101830725delinsAGCCGCCGCCGCC	GRCh38
NC_000012.11:g.102224491_102224503delinsAGCCGCCGCCGCC , CM000674.1:g.102224491_102224503delinsAGCCGCCGCCGCC	GRCh37
NC_000012.10:g.100748622_100748634delinsAGCCGCCGCCGCC	NCBI36
NG_021243.1:g.5143_5155delinsGGCGGCGGCGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-50_-38delinsGGCGGCGGCGGCT MANE Select	ENSP00000299314.7:n.-50_-38delinsGGCGGCGGCGGCT
ENST00000299314.11:c.-50_-38delinsGGCGGCGGCGGCT	ENSP00000299314.7:n.-50_-38delinsGGCGGCGGCGGCT
ENST00000392919.4:c.-50_-38delinsGGCGGCGGCGGCT	ENSP00000376651.4:n.-50_-38delinsGGCGGCGGCGGCT
ENST00000549940.5:c.-50_-38delinsGGCGGCGGCGGCT	ENSP00000449150.1:n.-50_-38delinsGGCGGCGGCGGCT
NM_024312.4:c.-50_-38delinsGGCGGCGGCGGCT	NP_077288.2:n.-50_-38delinsGGCGGCGGCGGCT
XM_006719593.2:c.-50_-38delinsGGCGGCGGCGGCT	XP_006719656.1:n.-50_-38delinsGGCGGCGGCGGCT
XM_006719593.3:c.-50_-38delinsGGCGGCGGCGGCT	XP_006719656.1:n.-50_-38delinsGGCGGCGGCGGCT
XM_017019961.1:c.-199_-187delinsGGCGGCGGCGGCT	XP_016875450.1:n.-199_-187delinsGGCGGCGGCGGCT
XM_017019962.2:c.-1400_-1388delinsGGCGGCGGCGGCT	XP_016875451.1:n.-1400_-1388delinsGGCGGCGGCGGCT
NM_024312.5:c.-50_-38delinsGGCGGCGGCGGCT MANE Select	NP_077288.2:n.-50_-38delinsGGCGGCGGCGGCT