Canonical Allele Identifier: CA2815081790
Gene: ADAM33 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669573del , CM000682.2:g.3669573del GRCh38
NC_000020.10:g.3650220del , CM000682.1:g.3650220del GRCh37
NC_000020.9:g.3598220del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2305del MANE Select ENSP00000348912.3:p.Thr769GlnfsTer?
ENST00000350009.6:c.2227del ENSP00000322550.5:p.Thr743GlnfsTer?
ENST00000356518.6:c.2305del ENSP00000348912.2:p.Thr769GlnfsTer?
ENST00000379861.8:c.2305del ENSP00000369190.4:p.Thr769GlnfsTer?
ENST00000466620.5:n.1866del
ENST00000483362.1:n.1053del
ENST00000617732.1:c.*992del ENSP00000483343.1:n.*992del
ENST00000619289.4:c.1945del ENSP00000484600.1:p.Thr649GlnfsTer?
NM_001282447.1:c.2305del NP_001269376.1:p.Thr769GlnfsTer?
NM_025220.3:c.2305del NP_079496.1:p.Thr769GlnfsTer?
NM_153202.2:c.2227del NP_694882.1:p.Thr743GlnfsTer?
XM_005260843.1:c.2344del XP_005260900.1:p.Thr782GlnfsTer?
XM_006723639.1:c.2344del XP_006723702.1:p.Thr782GlnfsTer?
XM_006723640.1:c.2335del XP_006723703.1:p.Thr779GlnfsTer?
XM_011529366.1:c.2341del XP_011527668.1:p.Thr781GlnfsTer?
XM_011529367.1:c.2302del XP_011527669.1:p.Thr768GlnfsTer?
XM_011529368.1:c.2266del XP_011527670.1:p.Thr756GlnfsTer?
XM_011529373.1:c.1342del XP_011527675.1:p.Thr448GlnfsTer?
XR_937151.1:n.2384-203del
XR_937152.1:n.2384-203del
XR_937153.1:n.2329del
XR_937154.1:n.2329del
XR_937155.1:n.2250del
XR_937157.1:n.2252del
NM_001282447.2:c.2305del NP_001269376.1:p.Thr769GlnfsTer?
NM_025220.4:c.2305del NP_079496.1:p.Thr769GlnfsTer?
NM_153202.3:c.2227del NP_694882.1:p.Thr743GlnfsTer?
XM_011529373.2:c.1342del XP_011527675.1:p.Thr448GlnfsTer?
XR_001754405.1:n.2416del
XR_002958534.1:n.2525del
NM_001282447.3:c.2305del NP_001269376.1:p.Thr769GlnfsTer?
NM_025220.5:c.2305del MANE Select NP_079496.1:p.Thr769GlnfsTer?
NM_153202.4:c.2227del NP_694882.1:p.Thr743GlnfsTer?