Canonical Allele Identifier: CA2058964764

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785983_101785984delinsAT , CM000674.2:g.101785983_101785984delinsAT	GRCh38
NC_000012.11:g.102179761_102179762delinsAT , CM000674.1:g.102179761_102179762delinsAT	GRCh37
NC_000012.10:g.100703892_100703893delinsAT	NCBI36
NG_021243.1:g.49884_49885delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+28_571+29delinsAT MANE Select	ENSP00000299314.7:n.571+28_571+29delinsAT
ENST00000299314.11:c.571+28_571+29delinsAT	ENSP00000299314.7:n.571+28_571+29delinsAT
ENST00000549940.5:c.571+28_571+29delinsAT	ENSP00000449150.1:n.571+28_571+29delinsAT
ENST00000550352.1:n.393_394delinsAT
ENST00000552681.1:c.205+28_205+29delinsAT	ENSP00000449217.1:n.205+28_205+29delinsAT
NM_024312.4:c.571+28_571+29delinsAT	NP_077288.2:n.571+28_571+29delinsAT
XM_006719593.2:c.571+28_571+29delinsAT	XP_006719656.1:n.571+28_571+29delinsAT
XM_011538731.1:c.490+28_490+29delinsAT	XP_011537033.1:n.490+28_490+29delinsAT
XM_006719593.3:c.571+28_571+29delinsAT	XP_006719656.1:n.571+28_571+29delinsAT
XM_011538731.2:c.490+28_490+29delinsAT	XP_011537033.1:n.490+28_490+29delinsAT
XM_017019961.1:c.355+28_355+29delinsAT	XP_016875450.1:n.355+28_355+29delinsAT
XM_017019962.2:c.-780+28_-780+29delinsAT	XP_016875451.1:n.-780+28_-780+29delinsAT
NM_024312.5:c.571+28_571+29delinsAT MANE Select	NP_077288.2:n.571+28_571+29delinsAT