Canonical Allele Identifier: CA2058985215

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830717_101830721delinsGCCGC , CM000674.2:g.101830717_101830721delinsGCCGC	GRCh38
NC_000012.11:g.102224495_102224499delinsGCCGC , CM000674.1:g.102224495_102224499delinsGCCGC	GRCh37
NC_000012.10:g.100748626_100748630delinsGCCGC	NCBI36
NG_021243.1:g.5147_5151delinsGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-46_-42delinsGCGGC MANE Select	ENSP00000299314.7:n.-46_-42delinsGCGGC
ENST00000299314.11:c.-46_-42delinsGCGGC	ENSP00000299314.7:n.-46_-42delinsGCGGC
ENST00000392919.4:c.-46_-42delinsGCGGC	ENSP00000376651.4:n.-46_-42delinsGCGGC
ENST00000549940.5:c.-46_-42delinsGCGGC	ENSP00000449150.1:n.-46_-42delinsGCGGC
NM_024312.4:c.-46_-42delinsGCGGC	NP_077288.2:n.-46_-42delinsGCGGC
XM_006719593.2:c.-46_-42delinsGCGGC	XP_006719656.1:n.-46_-42delinsGCGGC
XM_006719593.3:c.-46_-42delinsGCGGC	XP_006719656.1:n.-46_-42delinsGCGGC
XM_017019961.1:c.-195_-191delinsGCGGC	XP_016875450.1:n.-195_-191delinsGCGGC
XM_017019962.2:c.-1396_-1392delinsGCGGC	XP_016875451.1:n.-1396_-1392delinsGCGGC
NM_024312.5:c.-46_-42delinsGCGGC MANE Select	NP_077288.2:n.-46_-42delinsGCGGC