Canonical Allele Identifier: CA2840406572
Gene: ADAM33 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671609_3671611del , CM000682.2:g.3671609_3671611del GRCh38
NC_000020.10:g.3652256_3652258del , CM000682.1:g.3652256_3652258del GRCh37
NC_000020.9:g.3600256_3600258del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1875_1877del MANE Select ENSP00000348912.3:p.Glu626del
ENST00000350009.6:c.1875_1877del ENSP00000322550.5:p.Glu626del
ENST00000356518.6:c.1875_1877del ENSP00000348912.2:p.Glu626del
ENST00000379861.8:c.1875_1877del ENSP00000369190.4:p.Glu626del
ENST00000466620.5:n.1514_1516del
ENST00000617732.1:c.*632-154_*632-152del ENSP00000483343.1:n.*632-154_*632-152del
ENST00000619289.4:c.1515_1517del ENSP00000484600.1:p.Glu506del
NM_001282447.1:c.1875_1877del NP_001269376.1:p.Glu626del
NM_025220.3:c.1875_1877del NP_079496.1:p.Glu626del
NM_153202.2:c.1875_1877del NP_694882.1:p.Glu626del
XM_005260843.1:c.1914_1916del XP_005260900.1:p.Glu639del
XM_006723639.1:c.1914_1916del XP_006723702.1:p.Glu639del
XM_006723640.1:c.1905_1907del XP_006723703.1:p.Glu636del
XM_011529366.1:c.1911_1913del XP_011527668.1:p.Glu638del
XM_011529367.1:c.1872_1874del XP_011527669.1:p.Glu625del
XM_011529368.1:c.1914_1916del XP_011527670.1:p.Glu639del
XM_011529369.1:c.1882_1884del XP_011527671.1:p.Arg628del
XM_011529370.1:c.1882_1884del XP_011527672.1:p.Arg628del
XM_011529373.1:c.912_914del XP_011527675.1:p.Glu305del
XR_937151.1:n.2018_2020del
XR_937152.1:n.2018_2020del
XR_937153.1:n.1899_1901del
XR_937154.1:n.1899_1901del
XR_937155.1:n.1820_1822del
XR_937157.1:n.1822_1824del
NM_001282447.2:c.1875_1877del NP_001269376.1:p.Glu626del
NM_025220.4:c.1875_1877del NP_079496.1:p.Glu626del
NM_153202.3:c.1875_1877del NP_694882.1:p.Glu626del
XM_011529373.2:c.912_914del XP_011527675.1:p.Glu305del
XR_001754405.1:n.1986_1988del
XR_002958534.1:n.2095_2097del
NM_001282447.3:c.1875_1877del NP_001269376.1:p.Glu626del
NM_025220.5:c.1875_1877del MANE Select NP_079496.1:p.Glu626del
NM_153202.4:c.1875_1877del NP_694882.1:p.Glu626del