Canonical Allele Identifier: CA2620445720

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101786066-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786070dup , CM000674.2:g.101786070dup	GRCh38
NC_000012.11:g.102179848dup , CM000674.1:g.102179848dup	GRCh37
NC_000012.10:g.100703979dup	NCBI36
NG_021243.1:g.49801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.516dup MANE Select	ENSP00000299314.7:p.Pro173ThrfsTer14
ENST00000299314.11:c.516dup	ENSP00000299314.7:p.Pro173ThrfsTer14
ENST00000549940.5:c.516dup	ENSP00000449150.1:p.Pro173ThrfsTer14
ENST00000550352.1:n.310dup
ENST00000552681.1:c.150dup	ENSP00000449217.1:p.Pro51ThrfsTer14
NM_024312.4:c.516dup	NP_077288.2:p.Pro173ThrfsTer14
XM_006719593.2:c.516dup	XP_006719656.1:p.Pro173ThrfsTer14
XM_011538731.1:c.435dup	XP_011537033.1:p.Pro146ThrfsTer14
XM_006719593.3:c.516dup	XP_006719656.1:p.Pro173ThrfsTer14
XM_011538731.2:c.435dup	XP_011537033.1:p.Pro146ThrfsTer14
XM_017019961.1:c.300dup	XP_016875450.1:p.Pro101ThrfsTer14
XM_017019962.2:c.-835dup	XP_016875451.1:n.-835dup
NM_024312.5:c.516dup MANE Select	NP_077288.2:p.Pro173ThrfsTer14