Canonical Allele Identifier: CA2058964841

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786141_101786142delinsTG , CM000674.2:g.101786141_101786142delinsTG	GRCh38
NC_000012.11:g.102179919_102179920delinsTG , CM000674.1:g.102179919_102179920delinsTG	GRCh37
NC_000012.10:g.100704050_100704051delinsTG	NCBI36
NG_021243.1:g.49726_49727delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.441_442delinsCA MANE Select	ENSP00000299314.7:p.Ala147=
ENST00000299314.11:c.441_442delinsCA	ENSP00000299314.7:p.Ala147=
ENST00000549940.5:c.441_442delinsCA	ENSP00000449150.1:p.Ala147=
ENST00000550352.1:n.235_236delinsCA
ENST00000552681.1:c.75_76delinsCA	ENSP00000449217.1:p.Ala25=
NM_024312.4:c.441_442delinsCA	NP_077288.2:p.Ala147=
XM_006719593.2:c.441_442delinsCA	XP_006719656.1:p.Ala147=
XM_011538731.1:c.360_361delinsCA	XP_011537033.1:p.Ala120=
XM_006719593.3:c.441_442delinsCA	XP_006719656.1:p.Ala147=
XM_011538731.2:c.360_361delinsCA	XP_011537033.1:p.Ala120=
XM_017019961.1:c.225_226delinsCA	XP_016875450.1:p.Ala75=
XM_017019962.2:c.-910_-909delinsCA	XP_016875451.1:n.-910_-909delinsCA
NM_024312.5:c.441_442delinsCA MANE Select	NP_077288.2:p.Ala147=