Canonical Allele Identifier: CA2058985338

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830883_101830909delinsTCGGCGCGGCGGAGGCGGACCTGCGGC , CM000674.2:g.101830883_101830909delinsTCGGCGCGGCGGAGGCGGACCTGCGGC	GRCh38
NC_000012.11:g.102224661_102224687delinsTCGGCGCGGCGGAGGCGGACCTGCGGC , CM000674.1:g.102224661_102224687delinsTCGGCGCGGCGGAGGCGGACCTGCGGC	GRCh37
NC_000012.10:g.100748792_100748818delinsTCGGCGCGGCGGAGGCGGACCTGCGGC	NCBI36
NG_021243.1:g.4959_4985delinsGCCGCAGGTCCGCCTCCGCCGCGCCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-234_-208delinsGCCGCAGGTCCGCCTCCGCCGCGCCGA MANE Select	ENSP00000299314.7:n.-234_-208delinsGCCGCAGGTCCGCCTCCGCCGCGCCG...
ENST00000299314.11:c.-234_-208delinsGCCGCAGGTCCGCCTCCGCCGCGCCGA	ENSP00000299314.7:n.-234_-208delinsGCCGCAGGTCCGCCTCCGCCGCGCCG...
NM_024312.5:c.-234_-208delinsGCCGCAGGTCCGCCTCCGCCGCGCCGA MANE Select	NP_077288.2:n.-234_-208delinsGCCGCAGGTCCGCCTCCGCCGCGCCGA