Canonical Allele Identifier: CA2058957111

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768370_101768374delinsGTATT , CM000674.2:g.101768370_101768374delinsGTATT	GRCh38
NC_000012.11:g.102162148_102162152delinsGTATT , CM000674.1:g.102162148_102162152delinsGTATT	GRCh37
NC_000012.10:g.100686279_100686283delinsGTATT	NCBI36
NG_021243.1:g.67494_67498delinsAATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-214_1285-210delinsAATAC MANE Select	ENSP00000299314.7:n.1285-214_1285-210delinsAATAC
ENST00000299314.11:c.1285-214_1285-210delinsAATAC	ENSP00000299314.7:n.1285-214_1285-210delinsAATAC
ENST00000549940.5:c.1285-214_1285-210delinsAATAC	ENSP00000449150.1:n.1285-214_1285-210delinsAATAC
NM_024312.4:c.1285-214_1285-210delinsAATAC	NP_077288.2:n.1285-214_1285-210delinsAATAC
XM_006719593.2:c.1285-214_1285-210delinsAATAC	XP_006719656.1:n.1285-214_1285-210delinsAATAC
XM_011538731.1:c.1204-214_1204-210delinsAATAC	XP_011537033.1:n.1204-214_1204-210delinsAATAC
XM_006719593.3:c.1285-214_1285-210delinsAATAC	XP_006719656.1:n.1285-214_1285-210delinsAATAC
XM_011538731.2:c.1204-214_1204-210delinsAATAC	XP_011537033.1:n.1204-214_1204-210delinsAATAC
XM_017019961.1:c.1069-214_1069-210delinsAATAC	XP_016875450.1:n.1069-214_1069-210delinsAATAC
XM_017019962.2:c.58-214_58-210delinsAATAC	XP_016875451.1:n.58-214_58-210delinsAATAC
NM_024312.5:c.1285-214_1285-210delinsAATAC MANE Select	NP_077288.2:n.1285-214_1285-210delinsAATAC