Canonical Allele Identifier: CA2620427919

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760035-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760038del , CM000674.2:g.101760038del	GRCh38
NC_000012.11:g.102153816del , CM000674.1:g.102153816del	GRCh37
NC_000012.10:g.100677947del	NCBI36
NG_021243.1:g.75832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3243del MANE Select	ENSP00000299314.7:p.Asn1082ThrfsTer9
ENST00000299314.11:c.3243del	ENSP00000299314.7:p.Asn1082ThrfsTer9
ENST00000549194.1:n.109del
ENST00000550718.1:c.55del
NM_024312.4:c.3243del	NP_077288.2:p.Asn1082ThrfsTer9
XM_006719593.2:c.3243del	XP_006719656.1:p.Asn1082ThrfsTer9
XM_011538731.1:c.3162del	XP_011537033.1:p.Asn1055ThrfsTer9
XM_006719593.3:c.3243del	XP_006719656.1:p.Asn1082ThrfsTer9
XM_011538731.2:c.3162del	XP_011537033.1:p.Asn1055ThrfsTer9
XM_017019961.1:c.3027del	XP_016875450.1:p.Asn1010ThrfsTer9
XM_017019962.2:c.2016del	XP_016875451.1:p.Asn673ThrfsTer9
NM_024312.5:c.3243del MANE Select	NP_077288.2:p.Asn1082ThrfsTer9