Canonical Allele Identifier: CA2620445685

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101786046-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786048del , CM000674.2:g.101786048del	GRCh38
NC_000012.11:g.102179826del , CM000674.1:g.102179826del	GRCh37
NC_000012.10:g.100703957del	NCBI36
NG_021243.1:g.49821del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.536del MANE Select	ENSP00000299314.7:p.Asn179MetfsTer?
ENST00000299314.11:c.536del	ENSP00000299314.7:p.Asn179MetfsTer?
ENST00000549940.5:c.536del	ENSP00000449150.1:p.Asn179MetfsTer?
ENST00000550352.1:n.330del
ENST00000552681.1:c.170del	ENSP00000449217.1:p.Asn57MetfsTer?
NM_024312.4:c.536del	NP_077288.2:p.Asn179MetfsTer?
XM_006719593.2:c.536del	XP_006719656.1:p.Asn179MetfsTer?
XM_011538731.1:c.455del	XP_011537033.1:p.Asn152MetfsTer?
XM_006719593.3:c.536del	XP_006719656.1:p.Asn179MetfsTer?
XM_011538731.2:c.455del	XP_011537033.1:p.Asn152MetfsTer?
XM_017019961.1:c.320del	XP_016875450.1:p.Asn107MetfsTer?
XM_017019962.2:c.-815del	XP_016875451.1:n.-815del
NM_024312.5:c.536del MANE Select	NP_077288.2:p.Asn179MetfsTer?