Canonical Allele Identifier: CA2058969426

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796662_101796663delinsCA , CM000674.2:g.101796662_101796663delinsCA	GRCh38
NC_000012.11:g.102190440_102190441delinsCA , CM000674.1:g.102190440_102190441delinsCA	GRCh37
NC_000012.10:g.100714571_100714572delinsCA	NCBI36
NG_021243.1:g.39205_39206delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+14_203+15delinsTG MANE Select	ENSP00000299314.7:n.203+14_203+15delinsTG
ENST00000647144.1:n.323+14_323+15delinsTG
ENST00000299314.11:c.203+14_203+15delinsTG	ENSP00000299314.7:n.203+14_203+15delinsTG
ENST00000392919.4:c.203+14_203+15delinsTG	ENSP00000376651.4:n.203+14_203+15delinsTG
ENST00000549165.1:c.*10_*11delinsTG	ENSP00000450413.1:n.*10_*11delinsTG
ENST00000549940.5:c.203+14_203+15delinsTG	ENSP00000449150.1:n.203+14_203+15delinsTG
NM_024312.4:c.203+14_203+15delinsTG	NP_077288.2:n.203+14_203+15delinsTG
XM_006719593.2:c.203+14_203+15delinsTG	XP_006719656.1:n.203+14_203+15delinsTG
XM_011538731.1:c.122+14_122+15delinsTG	XP_011537033.1:n.122+14_122+15delinsTG
XM_006719593.3:c.203+14_203+15delinsTG	XP_006719656.1:n.203+14_203+15delinsTG
XM_011538731.2:c.122+14_122+15delinsTG	XP_011537033.1:n.122+14_122+15delinsTG
XM_017019961.1:c.-14+14_-14+15delinsTG	XP_016875450.1:n.-14+14_-14+15delinsTG
XM_017019962.2:c.-1148+14_-1148+15delinsTG	XP_016875451.1:n.-1148+14_-1148+15delinsTG
NM_024312.5:c.203+14_203+15delinsTG MANE Select	NP_077288.2:n.203+14_203+15delinsTG