Canonical Allele Identifier: CA2575265077

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770590_101770591del , CM000674.2:g.101770590_101770591del	GRCh38
NC_000012.11:g.102164368_102164369del , CM000674.1:g.102164368_102164369del	GRCh37
NC_000012.10:g.100688499_100688500del	NCBI36
NG_021243.1:g.65279_65280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.934-4_934-3del MANE Select	ENSP00000299314.7:n.934-4_934-3del
ENST00000299314.11:c.934-4_934-3del	ENSP00000299314.7:n.934-4_934-3del
ENST00000549940.5:c.934-4_934-3del	ENSP00000449150.1:n.934-4_934-3del
NM_024312.4:c.934-4_934-3del	NP_077288.2:n.934-4_934-3del
XM_006719593.2:c.934-4_934-3del	XP_006719656.1:n.934-4_934-3del
XM_011538731.1:c.853-4_853-3del	XP_011537033.1:n.853-4_853-3del
XM_006719593.3:c.934-4_934-3del	XP_006719656.1:n.934-4_934-3del
XM_011538731.2:c.853-4_853-3del	XP_011537033.1:n.853-4_853-3del
XM_017019961.1:c.718-4_718-3del	XP_016875450.1:n.718-4_718-3del
XM_017019962.2:c.-298_-297del	XP_016875451.1:n.-298_-297del
NM_024312.5:c.934-4_934-3del MANE Select	NP_077288.2:n.934-4_934-3del