Canonical Allele Identifier: CA2058985265

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830791_101830803delinsCCTCCGGGCGCCG , CM000674.2:g.101830791_101830803delinsCCTCCGGGCGCCG	GRCh38
NC_000012.11:g.102224569_102224581delinsCCTCCGGGCGCCG , CM000674.1:g.102224569_102224581delinsCCTCCGGGCGCCG	GRCh37
NC_000012.10:g.100748700_100748712delinsCCTCCGGGCGCCG	NCBI36
NG_021243.1:g.5065_5077delinsCGGCGCCCGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-128_-116delinsCGGCGCCCGGAGG MANE Select	ENSP00000299314.7:n.-128_-116delinsCGGCGCCCGGAGG
ENST00000299314.11:c.-128_-116delinsCGGCGCCCGGAGG	ENSP00000299314.7:n.-128_-116delinsCGGCGCCCGGAGG
ENST00000392919.4:c.-128_-116delinsCGGCGCCCGGAGG	ENSP00000376651.4:n.-128_-116delinsCGGCGCCCGGAGG
ENST00000549940.5:c.-128_-116delinsCGGCGCCCGGAGG	ENSP00000449150.1:n.-128_-116delinsCGGCGCCCGGAGG
NM_024312.4:c.-128_-116delinsCGGCGCCCGGAGG	NP_077288.2:n.-128_-116delinsCGGCGCCCGGAGG
XM_006719593.2:c.-128_-116delinsCGGCGCCCGGAGG	XP_006719656.1:n.-128_-116delinsCGGCGCCCGGAGG
XM_006719593.3:c.-128_-116delinsCGGCGCCCGGAGG	XP_006719656.1:n.-128_-116delinsCGGCGCCCGGAGG
XM_017019961.1:c.-277_-265delinsCGGCGCCCGGAGG	XP_016875450.1:n.-277_-265delinsCGGCGCCCGGAGG
XM_017019962.2:c.-1478_-1466delinsCGGCGCCCGGAGG	XP_016875451.1:n.-1478_-1466delinsCGGCGCCCGGAGG
NM_024312.5:c.-128_-116delinsCGGCGCCCGGAGG MANE Select	NP_077288.2:n.-128_-116delinsCGGCGCCCGGAGG