Canonical Allele Identifier: CA2695217348

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786112_101786113del , CM000674.2:g.101786112_101786113del	GRCh38
NC_000012.11:g.102179890_102179891del , CM000674.1:g.102179890_102179891del	GRCh37
NC_000012.10:g.100704021_100704022del	NCBI36
NG_021243.1:g.49756_49757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.471_472del MANE Select	ENSP00000299314.7:p.Tyr158SerfsTer8
ENST00000299314.11:c.471_472del	ENSP00000299314.7:p.Tyr158SerfsTer8
ENST00000549940.5:c.471_472del	ENSP00000449150.1:p.Tyr158SerfsTer8
ENST00000550352.1:n.265_266del
ENST00000552681.1:c.105_106del	ENSP00000449217.1:p.Tyr36SerfsTer8
NM_024312.4:c.471_472del	NP_077288.2:p.Tyr158SerfsTer8
XM_006719593.2:c.471_472del	XP_006719656.1:p.Tyr158SerfsTer8
XM_011538731.1:c.390_391del	XP_011537033.1:p.Tyr131SerfsTer8
XM_006719593.3:c.471_472del	XP_006719656.1:p.Tyr158SerfsTer8
XM_011538731.2:c.390_391del	XP_011537033.1:p.Tyr131SerfsTer8
XM_017019961.1:c.255_256del	XP_016875450.1:p.Tyr86SerfsTer8
XM_017019962.2:c.-880_-879del	XP_016875451.1:n.-880_-879del
NM_024312.5:c.471_472del MANE Select	NP_077288.2:p.Tyr158SerfsTer8