Canonical Allele Identifier: CA2620446503

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101764827-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764831del , CM000674.2:g.101764831del	GRCh38
NC_000012.11:g.102158609del , CM000674.1:g.102158609del	GRCh37
NC_000012.10:g.100682740del	NCBI36
NG_021243.1:g.71040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2089del MANE Select	ENSP00000299314.7:p.Leu697TrpfsTer2
ENST00000299314.11:c.2089del	ENSP00000299314.7:p.Leu697TrpfsTer2
NM_024312.4:c.2089del	NP_077288.2:p.Leu697TrpfsTer2
XM_006719593.2:c.2089del	XP_006719656.1:p.Leu697TrpfsTer2
XM_011538731.1:c.2008del	XP_011537033.1:p.Leu670TrpfsTer2
XM_006719593.3:c.2089del	XP_006719656.1:p.Leu697TrpfsTer2
XM_011538731.2:c.2008del	XP_011537033.1:p.Leu670TrpfsTer2
XM_017019961.1:c.1873del	XP_016875450.1:p.Leu625TrpfsTer2
XM_017019962.2:c.862del	XP_016875451.1:p.Leu288TrpfsTer2
NM_024312.5:c.2089del MANE Select	NP_077288.2:p.Leu697TrpfsTer2