Canonical Allele Identifier: CA915946675

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 556677
• ClinVar RCV Id: RCV000672712
• dbSNP Id: rs1555268297

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753476_101753477insTCTTTATGA , CM000674.2:g.101753476_101753477insTCTTTATGA	GRCh38
NC_000012.11:g.102147254_102147255insTCTTTATGA , CM000674.1:g.102147254_102147255insTCTTTATGA	GRCh37
NC_000012.10:g.100671385_100671386insTCTTTATGA	NCBI36
NG_021243.1:g.82392_82393insCATAAAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3498_3499insCATAAAGAT MANE Select	ENSP00000299314.7:p.Ala1166_Val1167insHisLysAsp
ENST00000299314.11:c.3498_3499insCATAAAGAT	ENSP00000299314.7:p.Ala1166_Val1167insHisLysAsp
ENST00000549738.5:c.396_397insCATAAAGAT	ENSP00000450161.1:n.396_397insCATAAAGAT
NM_024312.4:c.3498_3499insCATAAAGAT	NP_077288.2:p.Ala1166_Val1167insHisLysAsp
XM_011538731.1:c.3417_3418insCATAAAGAT	XP_011537033.1:p.Ala1139_Val1140insHisLysAsp
XM_011538731.2:c.3417_3418insCATAAAGAT	XP_011537033.1:p.Ala1139_Val1140insHisLysAsp
XM_017019961.1:c.3282_3283insCATAAAGAT	XP_016875450.1:p.Ala1094_Val1095insHisLysAsp
XM_017019962.2:c.2271_2272insCATAAAGAT	XP_016875451.1:p.Ala757_Val758insHisLysAsp
NM_024312.5:c.3498_3499insCATAAAGAT MANE Select	NP_077288.2:p.Ala1166_Val1167insHisLysAsp