Canonical Allele Identifier: CA2797216507

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830936_101830938del , CM000674.2:g.101830936_101830938del	GRCh38
NC_000012.11:g.102224714_102224716del , CM000674.1:g.102224714_102224716del	GRCh37
NC_000012.10:g.100748845_100748847del	NCBI36
NG_021243.1:g.4930_4932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-263_-261del MANE Select	ENSP00000299314.7:n.-263_-261del
ENST00000299314.11:c.-263_-261del	ENSP00000299314.7:n.-263_-261del
NM_024312.5:c.-263_-261del MANE Select	NP_077288.2:n.-263_-261del