Canonical Allele Identifier: CA2575265261

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796668_101796671del , CM000674.2:g.101796668_101796671del	GRCh38
NC_000012.11:g.102190446_102190449del , CM000674.1:g.102190446_102190449del	GRCh37
NC_000012.10:g.100714577_100714580del	NCBI36
NG_021243.1:g.39199_39202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+8_203+11del MANE Select	ENSP00000299314.7:n.203+8_203+11del
ENST00000647144.1:n.323+8_323+11del
ENST00000299314.11:c.203+8_203+11del	ENSP00000299314.7:n.203+8_203+11del
ENST00000392919.4:c.203+8_203+11del	ENSP00000376651.4:n.203+8_203+11del
ENST00000549165.1:c.*4_*7del	ENSP00000450413.1:n.*4_*7del
ENST00000549940.5:c.203+8_203+11del	ENSP00000449150.1:n.203+8_203+11del
NM_024312.4:c.203+8_203+11del	NP_077288.2:n.203+8_203+11del
XM_006719593.2:c.203+8_203+11del	XP_006719656.1:n.203+8_203+11del
XM_011538731.1:c.122+8_122+11del	XP_011537033.1:n.122+8_122+11del
XM_006719593.3:c.203+8_203+11del	XP_006719656.1:n.203+8_203+11del
XM_011538731.2:c.122+8_122+11del	XP_011537033.1:n.122+8_122+11del
XM_017019961.1:c.-14+8_-14+11del	XP_016875450.1:n.-14+8_-14+11del
XM_017019962.2:c.-1148+8_-1148+11del	XP_016875451.1:n.-1148+8_-1148+11del
NM_024312.5:c.203+8_203+11del MANE Select	NP_077288.2:n.203+8_203+11del