Canonical Allele Identifier: CA2695217195

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760063dup , CM000674.2:g.101760063dup	GRCh38
NC_000012.11:g.102153841dup , CM000674.1:g.102153841dup	GRCh37
NC_000012.10:g.100677972dup	NCBI36
NG_021243.1:g.75805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3216dup MANE Select	ENSP00000299314.7:p.Pro1073ThrfsTer8
ENST00000299314.11:c.3216dup	ENSP00000299314.7:p.Pro1073ThrfsTer8
ENST00000549194.1:n.82dup
ENST00000550718.1:c.28dup
NM_024312.4:c.3216dup	NP_077288.2:p.Pro1073ThrfsTer8
XM_006719593.2:c.3216dup	XP_006719656.1:p.Pro1073ThrfsTer8
XM_011538731.1:c.3135dup	XP_011537033.1:p.Pro1046ThrfsTer8
XM_006719593.3:c.3216dup	XP_006719656.1:p.Pro1073ThrfsTer8
XM_011538731.2:c.3135dup	XP_011537033.1:p.Pro1046ThrfsTer8
XM_017019961.1:c.3000dup	XP_016875450.1:p.Pro1001ThrfsTer8
XM_017019962.2:c.1989dup	XP_016875451.1:p.Pro664ThrfsTer8
NM_024312.5:c.3216dup MANE Select	NP_077288.2:p.Pro1073ThrfsTer8