Canonical Allele Identifier: CA2523245479

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796557_101796558del , CM000674.2:g.101796557_101796558del	GRCh38
NC_000012.11:g.102190335_102190336del , CM000674.1:g.102190335_102190336del	GRCh37
NC_000012.10:g.100714466_100714467del	NCBI36
NG_021243.1:g.39311_39312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+120_203+121del MANE Select	ENSP00000299314.7:n.203+120_203+121del
ENST00000647144.1:n.323+120_323+121del
ENST00000299314.11:c.203+120_203+121del	ENSP00000299314.7:n.203+120_203+121del
ENST00000392919.4:c.203+120_203+121del	ENSP00000376651.4:n.203+120_203+121del
ENST00000549165.1:c.*116_*117del	ENSP00000450413.1:n.*116_*117del
ENST00000549940.5:c.203+120_203+121del	ENSP00000449150.1:n.203+120_203+121del
NM_024312.4:c.203+120_203+121del	NP_077288.2:n.203+120_203+121del
XM_006719593.2:c.203+120_203+121del	XP_006719656.1:n.203+120_203+121del
XM_011538731.1:c.122+120_122+121del	XP_011537033.1:n.122+120_122+121del
XM_006719593.3:c.203+120_203+121del	XP_006719656.1:n.203+120_203+121del
XM_011538731.2:c.122+120_122+121del	XP_011537033.1:n.122+120_122+121del
XM_017019961.1:c.-14+120_-14+121del	XP_016875450.1:n.-14+120_-14+121del
XM_017019962.2:c.-1148+120_-1148+121del	XP_016875451.1:n.-1148+120_-1148+121del
NM_024312.5:c.203+120_203+121del MANE Select	NP_077288.2:n.203+120_203+121del