Canonical Allele Identifier: CA2058964802

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786064_101786066delinsTGG , CM000674.2:g.101786064_101786066delinsTGG	GRCh38
NC_000012.11:g.102179842_102179844delinsTGG , CM000674.1:g.102179842_102179844delinsTGG	GRCh37
NC_000012.10:g.100703973_100703975delinsTGG	NCBI36
NG_021243.1:g.49802_49804delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.517_519delinsCCA MANE Select	ENSP00000299314.7:p.Pro173=
ENST00000299314.11:c.517_519delinsCCA	ENSP00000299314.7:p.Pro173=
ENST00000549940.5:c.517_519delinsCCA	ENSP00000449150.1:p.Pro173=
ENST00000550352.1:n.311_313delinsCCA
ENST00000552681.1:c.151_153delinsCCA	ENSP00000449217.1:p.Pro51=
NM_024312.4:c.517_519delinsCCA	NP_077288.2:p.Pro173=
XM_006719593.2:c.517_519delinsCCA	XP_006719656.1:p.Pro173=
XM_011538731.1:c.436_438delinsCCA	XP_011537033.1:p.Pro146=
XM_006719593.3:c.517_519delinsCCA	XP_006719656.1:p.Pro173=
XM_011538731.2:c.436_438delinsCCA	XP_011537033.1:p.Pro146=
XM_017019961.1:c.301_303delinsCCA	XP_016875450.1:p.Pro101=
XM_017019962.2:c.-834_-832delinsCCA	XP_016875451.1:n.-834_-832delinsCCA
NM_024312.5:c.517_519delinsCCA MANE Select	NP_077288.2:p.Pro173=