Canonical Allele Identifier: CA2695217211

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770155_101770157dup , CM000674.2:g.101770155_101770157dup	GRCh38
NC_000012.11:g.102163933_102163935dup , CM000674.1:g.102163933_102163935dup	GRCh37
NC_000012.10:g.100688064_100688066dup	NCBI36
NG_021243.1:g.65711_65713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1148_1150dup MANE Select	ENSP00000299314.7:p.Phe383_Ser384insIle
ENST00000299314.11:c.1148_1150dup	ENSP00000299314.7:p.Phe383_Ser384insIle
ENST00000549940.5:c.1148_1150dup	ENSP00000449150.1:p.Phe383_Ser384insIle
NM_024312.4:c.1148_1150dup	NP_077288.2:p.Phe383_Ser384insIle
XM_006719593.2:c.1148_1150dup	XP_006719656.1:p.Phe383_Ser384insIle
XM_011538731.1:c.1067_1069dup	XP_011537033.1:p.Phe356_Ser357insIle
XM_006719593.3:c.1148_1150dup	XP_006719656.1:p.Phe383_Ser384insIle
XM_011538731.2:c.1067_1069dup	XP_011537033.1:p.Phe356_Ser357insIle
XM_017019961.1:c.932_934dup	XP_016875450.1:p.Phe311_Ser312insIle
XM_017019962.2:c.-80_-78dup	XP_016875451.1:n.-80_-78dup
NM_024312.5:c.1148_1150dup MANE Select	NP_077288.2:p.Phe383_Ser384insIle