Canonical Allele Identifier: CA2695217197

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760134_101760135insG , CM000674.2:g.101760134_101760135insG	GRCh38
NC_000012.11:g.102153912_102153913insG , CM000674.1:g.102153912_102153913insG	GRCh37
NC_000012.10:g.100678043_100678044insG	NCBI36
NG_021243.1:g.75733_75734insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3144_3145insC MANE Select	ENSP00000299314.7:p.Gly1049ArgfsTer16
ENST00000299314.11:c.3144_3145insC	ENSP00000299314.7:p.Gly1049ArgfsTer16
ENST00000549194.1:n.10_11insC
NM_024312.4:c.3144_3145insC	NP_077288.2:p.Gly1049ArgfsTer16
XM_006719593.2:c.3144_3145insC	XP_006719656.1:p.Gly1049ArgfsTer16
XM_011538731.1:c.3063_3064insC	XP_011537033.1:p.Gly1022ArgfsTer16
XM_006719593.3:c.3144_3145insC	XP_006719656.1:p.Gly1049ArgfsTer16
XM_011538731.2:c.3063_3064insC	XP_011537033.1:p.Gly1022ArgfsTer16
XM_017019961.1:c.2928_2929insC	XP_016875450.1:p.Gly977ArgfsTer16
XM_017019962.2:c.1917_1918insC	XP_016875451.1:p.Gly640ArgfsTer16
NM_024312.5:c.3144_3145insC MANE Select	NP_077288.2:p.Gly1049ArgfsTer16