Canonical Allele Identifier: CA2058964799

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786059_101786076delinsTTTTTTGGTTTTGCAACA , CM000674.2:g.101786059_101786076delinsTTTTTTGGTTTTGCAACA	GRCh38
NC_000012.11:g.102179837_102179854delinsTTTTTTGGTTTTGCAACA , CM000674.1:g.102179837_102179854delinsTTTTTTGGTTTTGCAACA	GRCh37
NC_000012.10:g.100703968_100703985delinsTTTTTTGGTTTTGCAACA	NCBI36
NG_021243.1:g.49792_49809delinsTGTTGCAAAACCAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.507_524delinsTGTTGCAAAACCAAAAAA MANE Select	ENSP00000299314.7:p.Asn169=
ENST00000299314.11:c.507_524delinsTGTTGCAAAACCAAAAAA	ENSP00000299314.7:p.Asn169=
ENST00000549940.5:c.507_524delinsTGTTGCAAAACCAAAAAA	ENSP00000449150.1:p.Asn169=
ENST00000550352.1:n.301_318delinsTGTTGCAAAACCAAAAAA
ENST00000552681.1:c.141_158delinsTGTTGCAAAACCAAAAAA	ENSP00000449217.1:p.Asn47=
NM_024312.4:c.507_524delinsTGTTGCAAAACCAAAAAA	NP_077288.2:p.Asn169=
XM_006719593.2:c.507_524delinsTGTTGCAAAACCAAAAAA	XP_006719656.1:p.Asn169=
XM_011538731.1:c.426_443delinsTGTTGCAAAACCAAAAAA	XP_011537033.1:p.Asn142=
XM_006719593.3:c.507_524delinsTGTTGCAAAACCAAAAAA	XP_006719656.1:p.Asn169=
XM_011538731.2:c.426_443delinsTGTTGCAAAACCAAAAAA	XP_011537033.1:p.Asn142=
XM_017019961.1:c.291_308delinsTGTTGCAAAACCAAAAAA	XP_016875450.1:p.Asn97=
XM_017019962.2:c.-844_-827delinsTGTTGCAAAACCAAAAAA	XP_016875451.1:n.-844_-827delinsTGTTGCAAAACCAAAAAA
NM_024312.5:c.507_524delinsTGTTGCAAAACCAAAAAA MANE Select	NP_077288.2:p.Asn169=