Canonical Allele Identifier: CA2058985360

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830903_101830915delinsCTGCGGCCGGCGA , CM000674.2:g.101830903_101830915delinsCTGCGGCCGGCGA	GRCh38
NC_000012.11:g.102224681_102224693delinsCTGCGGCCGGCGA , CM000674.1:g.102224681_102224693delinsCTGCGGCCGGCGA	GRCh37
NC_000012.10:g.100748812_100748824delinsCTGCGGCCGGCGA	NCBI36
NG_021243.1:g.4953_4965delinsTCGCCGGCCGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-240_-228delinsTCGCCGGCCGCAG MANE Select	ENSP00000299314.7:n.-240_-228delinsTCGCCGGCCGCAG
ENST00000299314.11:c.-240_-228delinsTCGCCGGCCGCAG	ENSP00000299314.7:n.-240_-228delinsTCGCCGGCCGCAG
NM_024312.5:c.-240_-228delinsTCGCCGGCCGCAG MANE Select	NP_077288.2:n.-240_-228delinsTCGCCGGCCGCAG