Canonical Allele Identifier: CA2573147974

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1679880
• ClinVar RCV Id: RCV002227896
• dbSNP Id: rs2137144428

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786066del , CM000674.2:g.101786066del	GRCh38
NC_000012.11:g.102179844del , CM000674.1:g.102179844del	GRCh37
NC_000012.10:g.100703975del	NCBI36
NG_021243.1:g.49803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.518del MANE Select	ENSP00000299314.7:p.Pro173GlnfsTer?
ENST00000299314.11:c.518del	ENSP00000299314.7:p.Pro173GlnfsTer?
ENST00000549940.5:c.518del	ENSP00000449150.1:p.Pro173GlnfsTer?
ENST00000550352.1:n.312del
ENST00000552681.1:c.152del	ENSP00000449217.1:p.Pro51GlnfsTer?
NM_024312.4:c.518del	NP_077288.2:p.Pro173GlnfsTer?
XM_006719593.2:c.518del	XP_006719656.1:p.Pro173GlnfsTer?
XM_011538731.1:c.437del	XP_011537033.1:p.Pro146GlnfsTer?
XM_006719593.3:c.518del	XP_006719656.1:p.Pro173GlnfsTer?
XM_011538731.2:c.437del	XP_011537033.1:p.Pro146GlnfsTer?
XM_017019961.1:c.302del	XP_016875450.1:p.Pro101GlnfsTer?
XM_017019962.2:c.-833del	XP_016875451.1:n.-833del
NM_024312.5:c.518del MANE Select	NP_077288.2:p.Pro173GlnfsTer?