Canonical Allele Identifier: CA2058964809

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1868624343

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786076del , CM000674.2:g.101786076del	GRCh38
NC_000012.11:g.102179854del , CM000674.1:g.102179854del	GRCh37
NC_000012.10:g.100703985del	NCBI36
NG_021243.1:g.49792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.507del MANE Select	ENSP00000299314.7:p.Asn169LysfsTer?
ENST00000299314.11:c.507del	ENSP00000299314.7:p.Asn169LysfsTer?
ENST00000549940.5:c.507del	ENSP00000449150.1:p.Asn169LysfsTer?
ENST00000550352.1:n.301del
ENST00000552681.1:c.141del	ENSP00000449217.1:p.Asn47LysfsTer?
NM_024312.4:c.507del	NP_077288.2:p.Asn169LysfsTer?
XM_006719593.2:c.507del	XP_006719656.1:p.Asn169LysfsTer?
XM_011538731.1:c.426del	XP_011537033.1:p.Asn142LysfsTer?
XM_006719593.3:c.507del	XP_006719656.1:p.Asn169LysfsTer?
XM_011538731.2:c.426del	XP_011537033.1:p.Asn142LysfsTer?
XM_017019961.1:c.291del	XP_016875450.1:p.Asn97LysfsTer?
XM_017019962.2:c.-844del	XP_016875451.1:n.-844del
NM_024312.5:c.507del MANE Select	NP_077288.2:p.Asn169LysfsTer?