Canonical Allele Identifier: CA2058964804

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786070_101786074delinsTGCAA , CM000674.2:g.101786070_101786074delinsTGCAA	GRCh38
NC_000012.11:g.102179848_102179852delinsTGCAA , CM000674.1:g.102179848_102179852delinsTGCAA	GRCh37
NC_000012.10:g.100703979_100703983delinsTGCAA	NCBI36
NG_021243.1:g.49794_49798delinsTTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.509_513delinsTTGCA MANE Select	ENSP00000299314.7:p.Val170=
ENST00000299314.11:c.509_513delinsTTGCA	ENSP00000299314.7:p.Val170=
ENST00000549940.5:c.509_513delinsTTGCA	ENSP00000449150.1:p.Val170=
ENST00000550352.1:n.303_307delinsTTGCA
ENST00000552681.1:c.143_147delinsTTGCA	ENSP00000449217.1:p.Val48=
NM_024312.4:c.509_513delinsTTGCA	NP_077288.2:p.Val170=
XM_006719593.2:c.509_513delinsTTGCA	XP_006719656.1:p.Val170=
XM_011538731.1:c.428_432delinsTTGCA	XP_011537033.1:p.Val143=
XM_006719593.3:c.509_513delinsTTGCA	XP_006719656.1:p.Val170=
XM_011538731.2:c.428_432delinsTTGCA	XP_011537033.1:p.Val143=
XM_017019961.1:c.293_297delinsTTGCA	XP_016875450.1:p.Val98=
XM_017019962.2:c.-842_-838delinsTTGCA	XP_016875451.1:n.-842_-838delinsTTGCA
NM_024312.5:c.509_513delinsTTGCA MANE Select	NP_077288.2:p.Val170=