Canonical Allele Identifier: CA2058964787

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786030_101786033delinsAAAC , CM000674.2:g.101786030_101786033delinsAAAC	GRCh38
NC_000012.11:g.102179808_102179811delinsAAAC , CM000674.1:g.102179808_102179811delinsAAAC	GRCh37
NC_000012.10:g.100703939_100703942delinsAAAC	NCBI36
NG_021243.1:g.49835_49838delinsGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.550_553delinsGTTT MANE Select	ENSP00000299314.7:p.Val184=
ENST00000299314.11:c.550_553delinsGTTT	ENSP00000299314.7:p.Val184=
ENST00000549940.5:c.550_553delinsGTTT	ENSP00000449150.1:p.Val184=
ENST00000550352.1:n.344_347delinsGTTT
ENST00000552681.1:c.184_187delinsGTTT	ENSP00000449217.1:p.Val62=
NM_024312.4:c.550_553delinsGTTT	NP_077288.2:p.Val184=
XM_006719593.2:c.550_553delinsGTTT	XP_006719656.1:p.Val184=
XM_011538731.1:c.469_472delinsGTTT	XP_011537033.1:p.Val157=
XM_006719593.3:c.550_553delinsGTTT	XP_006719656.1:p.Val184=
XM_011538731.2:c.469_472delinsGTTT	XP_011537033.1:p.Val157=
XM_017019961.1:c.334_337delinsGTTT	XP_016875450.1:p.Val112=
XM_017019962.2:c.-801_-798delinsGTTT	XP_016875451.1:n.-801_-798delinsGTTT
NM_024312.5:c.550_553delinsGTTT MANE Select	NP_077288.2:p.Val184=