Canonical Allele Identifier: CA2797215215

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785900dup , CM000674.2:g.101785900dup	GRCh38
NC_000012.11:g.102179678dup , CM000674.1:g.102179678dup	GRCh37
NC_000012.10:g.100703809dup	NCBI36
NG_021243.1:g.49972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+116dup MANE Select	ENSP00000299314.7:n.571+116dup
ENST00000299314.11:c.571+116dup	ENSP00000299314.7:n.571+116dup
ENST00000549940.5:c.571+116dup	ENSP00000449150.1:n.571+116dup
ENST00000550352.1:n.481dup
ENST00000552681.1:c.205+116dup	ENSP00000449217.1:n.205+116dup
NM_024312.4:c.571+116dup	NP_077288.2:n.571+116dup
XM_006719593.2:c.571+116dup	XP_006719656.1:n.571+116dup
XM_011538731.1:c.490+116dup	XP_011537033.1:n.490+116dup
XM_006719593.3:c.571+116dup	XP_006719656.1:n.571+116dup
XM_011538731.2:c.490+116dup	XP_011537033.1:n.490+116dup
XM_017019961.1:c.355+116dup	XP_016875450.1:n.355+116dup
XM_017019962.2:c.-780+116dup	XP_016875451.1:n.-780+116dup
NM_024312.5:c.571+116dup MANE Select	NP_077288.2:n.571+116dup