Canonical Allele Identifier: CA2815081792
Gene: ADAM33 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3669579_3669580del , CM000682.2:g.3669579_3669580del GRCh38
NC_000020.10:g.3650226_3650227del , CM000682.1:g.3650226_3650227del GRCh37
NC_000020.9:g.3598226_3598227del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.2299_2300del MANE Select ENSP00000348912.3:p.Gly767ProfsTer13
ENST00000350009.6:c.2221_2222del ENSP00000322550.5:p.Gly741ProfsTer13
ENST00000356518.6:c.2299_2300del ENSP00000348912.2:p.Gly767ProfsTer13
ENST00000379861.8:c.2299_2300del ENSP00000369190.4:p.Gly767ProfsTer13
ENST00000466620.5:n.1860_1861del
ENST00000483362.1:n.1047_1048del
ENST00000617732.1:c.*986_*987del ENSP00000483343.1:n.*986_*987del
ENST00000619289.4:c.1939_1940del ENSP00000484600.1:p.Gly647ProfsTer13
NM_001282447.1:c.2299_2300del NP_001269376.1:p.Gly767ProfsTer13
NM_025220.3:c.2299_2300del NP_079496.1:p.Gly767ProfsTer13
NM_153202.2:c.2221_2222del NP_694882.1:p.Gly741ProfsTer13
XM_005260843.1:c.2338_2339del XP_005260900.1:p.Gly780ProfsTer13
XM_006723639.1:c.2338_2339del XP_006723702.1:p.Gly780ProfsTer13
XM_006723640.1:c.2329_2330del XP_006723703.1:p.Gly777ProfsTer13
XM_011529366.1:c.2335_2336del XP_011527668.1:p.Gly779ProfsTer13
XM_011529367.1:c.2296_2297del XP_011527669.1:p.Gly766ProfsTer13
XM_011529368.1:c.2260_2261del XP_011527670.1:p.Gly754ProfsTer13
XM_011529373.1:c.1336_1337del XP_011527675.1:p.Gly446ProfsTer13
XR_937151.1:n.2384-209_2384-208del
XR_937152.1:n.2384-209_2384-208del
XR_937153.1:n.2323_2324del
XR_937154.1:n.2323_2324del
XR_937155.1:n.2244_2245del
XR_937157.1:n.2246_2247del
NM_001282447.2:c.2299_2300del NP_001269376.1:p.Gly767ProfsTer13
NM_025220.4:c.2299_2300del NP_079496.1:p.Gly767ProfsTer13
NM_153202.3:c.2221_2222del NP_694882.1:p.Gly741ProfsTer13
XM_011529373.2:c.1336_1337del XP_011527675.1:p.Gly446ProfsTer13
XR_001754405.1:n.2410_2411del
XR_002958534.1:n.2519_2520del
NM_001282447.3:c.2299_2300del NP_001269376.1:p.Gly767ProfsTer13
NM_025220.5:c.2299_2300del MANE Select NP_079496.1:p.Gly767ProfsTer13
NM_153202.4:c.2221_2222del NP_694882.1:p.Gly741ProfsTer13