Canonical Allele Identifier: CA2058985364

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830904_101830916delinsTGCGGCCGGCGAG , CM000674.2:g.101830904_101830916delinsTGCGGCCGGCGAG	GRCh38
NC_000012.11:g.102224682_102224694delinsTGCGGCCGGCGAG , CM000674.1:g.102224682_102224694delinsTGCGGCCGGCGAG	GRCh37
NC_000012.10:g.100748813_100748825delinsTGCGGCCGGCGAG	NCBI36
NG_021243.1:g.4952_4964delinsCTCGCCGGCCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-241_-229delinsCTCGCCGGCCGCA MANE Select	ENSP00000299314.7:n.-241_-229delinsCTCGCCGGCCGCA
ENST00000299314.11:c.-241_-229delinsCTCGCCGGCCGCA	ENSP00000299314.7:n.-241_-229delinsCTCGCCGGCCGCA
NM_024312.5:c.-241_-229delinsCTCGCCGGCCGCA MANE Select	NP_077288.2:n.-241_-229delinsCTCGCCGGCCGCA