Canonical Allele Identifier: CA2575264925

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757644_101757645del , CM000674.2:g.101757644_101757645del	GRCh38
NC_000012.11:g.102151422_102151423del , CM000674.1:g.102151422_102151423del	GRCh37
NC_000012.10:g.100675553_100675554del	NCBI36
NG_021243.1:g.78225_78226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3264_3265del MANE Select	ENSP00000299314.7:p.Leu1090SerfsTer5
ENST00000299314.11:c.3264_3265del	ENSP00000299314.7:p.Leu1090SerfsTer5
ENST00000549194.1:n.130_131del
ENST00000549738.5:c.15_16del	ENSP00000450161.1:p.Leu7SerfsTer5
ENST00000550718.1:c.76_77del
NM_024312.4:c.3264_3265del	NP_077288.2:p.Leu1090SerfsTer5
XM_006719593.2:c.3264_3265del	XP_006719656.1:p.Leu1090SerfsTer5
XM_011538731.1:c.3183_3184del	XP_011537033.1:p.Leu1063SerfsTer5
XM_006719593.3:c.3264_3265del	XP_006719656.1:p.Leu1090SerfsTer5
XM_011538731.2:c.3183_3184del	XP_011537033.1:p.Leu1063SerfsTer5
XM_017019961.1:c.3048_3049del	XP_016875450.1:p.Leu1018SerfsTer5
XM_017019962.2:c.2037_2038del	XP_016875451.1:p.Leu681SerfsTer5
NM_024312.5:c.3264_3265del MANE Select	NP_077288.2:p.Leu1090SerfsTer5