Canonical Allele Identifier: CA2058985346

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830893_101830913delinsGGAGGCGGACCTGCGGCCGGC , CM000674.2:g.101830893_101830913delinsGGAGGCGGACCTGCGGCCGGC	GRCh38
NC_000012.11:g.102224671_102224691delinsGGAGGCGGACCTGCGGCCGGC , CM000674.1:g.102224671_102224691delinsGGAGGCGGACCTGCGGCCGGC	GRCh37
NC_000012.10:g.100748802_100748822delinsGGAGGCGGACCTGCGGCCGGC	NCBI36
NG_021243.1:g.4955_4975delinsGCCGGCCGCAGGTCCGCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-238_-218delinsGCCGGCCGCAGGTCCGCCTCC MANE Select	ENSP00000299314.7:n.-238_-218delinsGCCGGCCGCAGGTCCGCCTCC
ENST00000299314.11:c.-238_-218delinsGCCGGCCGCAGGTCCGCCTCC	ENSP00000299314.7:n.-238_-218delinsGCCGGCCGCAGGTCCGCCTCC
NM_024312.5:c.-238_-218delinsGCCGGCCGCAGGTCCGCCTCC MANE Select	NP_077288.2:n.-238_-218delinsGCCGGCCGCAGGTCCGCCTCC