Canonical Allele Identifier: CA2346678763
Gene: ADAM33 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3671613_3671628delinsCCAGGCCCAGGCCAAG , CM000682.2:g.3671613_3671628delinsCCAGGCCCAGGCCAAG GRCh38
NC_000020.10:g.3652260_3652275delinsCCAGGCCCAGGCCAAG , CM000682.1:g.3652260_3652275delinsCCAGGCCCAGGCCAAG GRCh37
NC_000020.9:g.3600260_3600275delinsCCAGGCCCAGGCCAAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.1858_1873delinsCTTGGCCTGGGCCTGG MANE Select ENSP00000348912.3:p.Leu620=
ENST00000350009.6:c.1858_1873delinsCTTGGCCTGGGCCTGG ENSP00000322550.5:p.Leu620=
ENST00000356518.6:c.1858_1873delinsCTTGGCCTGGGCCTGG ENSP00000348912.2:p.Leu620=
ENST00000379861.8:c.1858_1873delinsCTTGGCCTGGGCCTGG ENSP00000369190.4:p.Leu620=
ENST00000466620.5:n.1497_1512delinsCTTGGCCTGGGCCTGG
ENST00000617732.1:c.*632-171_*632-156delinsCTTGGCCTGGGCCTGG ENSP00000483343.1:n.*632-171_*632-156delinsCTTGGCCTGGGCCTGG
ENST00000619289.4:c.1498_1513delinsCTTGGCCTGGGCCTGG ENSP00000484600.1:p.Leu500=
NM_001282447.1:c.1858_1873delinsCTTGGCCTGGGCCTGG NP_001269376.1:p.Leu620=
NM_025220.3:c.1858_1873delinsCTTGGCCTGGGCCTGG NP_079496.1:p.Leu620=
NM_153202.2:c.1858_1873delinsCTTGGCCTGGGCCTGG NP_694882.1:p.Leu620=
XM_005260843.1:c.1897_1912delinsCTTGGCCTGGGCCTGG XP_005260900.1:p.Leu633=
XM_006723639.1:c.1897_1912delinsCTTGGCCTGGGCCTGG XP_006723702.1:p.Leu633=
XM_006723640.1:c.1888_1903delinsCTTGGCCTGGGCCTGG XP_006723703.1:p.Leu630=
XM_011529366.1:c.1894_1909delinsCTTGGCCTGGGCCTGG XP_011527668.1:p.Leu632=
XM_011529367.1:c.1855_1870delinsCTTGGCCTGGGCCTGG XP_011527669.1:p.Leu619=
XM_011529368.1:c.1897_1912delinsCTTGGCCTGGGCCTGG XP_011527670.1:p.Leu633=
XM_011529369.1:c.1865_1880delinsCTTGGCCTGGGCCTGG XP_011527671.1:p.Ala622=
XM_011529370.1:c.1865_1880delinsCTTGGCCTGGGCCTGG XP_011527672.1:p.Ala622=
XM_011529373.1:c.895_910delinsCTTGGCCTGGGCCTGG XP_011527675.1:p.Leu299=
XR_937151.1:n.2001_2016delinsCTTGGCCTGGGCCTGG
XR_937152.1:n.2001_2016delinsCTTGGCCTGGGCCTGG
XR_937153.1:n.1882_1897delinsCTTGGCCTGGGCCTGG
XR_937154.1:n.1882_1897delinsCTTGGCCTGGGCCTGG
XR_937155.1:n.1803_1818delinsCTTGGCCTGGGCCTGG
XR_937157.1:n.1805_1820delinsCTTGGCCTGGGCCTGG
NM_001282447.2:c.1858_1873delinsCTTGGCCTGGGCCTGG NP_001269376.1:p.Leu620=
NM_025220.4:c.1858_1873delinsCTTGGCCTGGGCCTGG NP_079496.1:p.Leu620=
NM_153202.3:c.1858_1873delinsCTTGGCCTGGGCCTGG NP_694882.1:p.Leu620=
XM_011529373.2:c.895_910delinsCTTGGCCTGGGCCTGG XP_011527675.1:p.Leu299=
XR_001754405.1:n.1969_1984delinsCTTGGCCTGGGCCTGG
XR_002958534.1:n.2078_2093delinsCTTGGCCTGGGCCTGG
NM_001282447.3:c.1858_1873delinsCTTGGCCTGGGCCTGG NP_001269376.1:p.Leu620=
NM_025220.5:c.1858_1873delinsCTTGGCCTGGGCCTGG MANE Select NP_079496.1:p.Leu620=
NM_153202.4:c.1858_1873delinsCTTGGCCTGGGCCTGG NP_694882.1:p.Leu620=