Canonical Allele Identifier: CA2797216501

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830803del , CM000674.2:g.101830803del	GRCh38
NC_000012.11:g.102224581del , CM000674.1:g.102224581del	GRCh37
NC_000012.10:g.100748712del	NCBI36
NG_021243.1:g.5065del

Transcript Alleles

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