Canonical Allele Identifier: CA744014212

Gene: ADAM33

Linked Data

• dbSNP Id: rs1257503418
• gnomAD v3: 20-3671665-CCGA-C
• gnomAD v4: 20-3671665-CCGA-C
• MyVariant Identifiers: chr20:g.3652313_3652315del (hg19) ; chr20:g.3671666_3671668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671667_3671669del , CM000682.2:g.3671667_3671669del	GRCh38
NC_000020.10:g.3652314_3652316del , CM000682.1:g.3652314_3652316del	GRCh37
NC_000020.9:g.3600314_3600316del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1818_1820del MANE Select	ENSP00000348912.3:p.Cys606_Arg607delinsTrp
ENST00000350009.6:c.1818_1820del	ENSP00000322550.5:p.Cys606_Arg607delinsTrp
ENST00000356518.6:c.1818_1820del	ENSP00000348912.2:p.Cys606_Arg607delinsTrp
ENST00000379861.8:c.1818_1820del	ENSP00000369190.4:p.Cys606_Arg607delinsTrp
ENST00000466620.5:n.1457_1459del
ENST00000617732.1:c.*632-211_*632-209del	ENSP00000483343.1:n.*632-211_*632-209del
ENST00000619289.4:c.1458_1460del	ENSP00000484600.1:p.Cys486_Arg487delinsTrp
NM_001282447.1:c.1818_1820del	NP_001269376.1:p.Cys606_Arg607delinsTrp
NM_025220.3:c.1818_1820del	NP_079496.1:p.Cys606_Arg607delinsTrp
NM_153202.2:c.1818_1820del	NP_694882.1:p.Cys606_Arg607delinsTrp
XM_005260843.1:c.1857_1859del	XP_005260900.1:p.Cys619_Arg620delinsTrp
XM_006723639.1:c.1857_1859del	XP_006723702.1:p.Cys619_Arg620delinsTrp
XM_006723640.1:c.1848_1850del	XP_006723703.1:p.Cys616_Arg617delinsTrp
XM_011529366.1:c.1854_1856del	XP_011527668.1:p.Cys618_Arg619delinsTrp
XM_011529367.1:c.1815_1817del	XP_011527669.1:p.Cys605_Arg606delinsTrp
XM_011529368.1:c.1857_1859del	XP_011527670.1:p.Cys619_Arg620delinsTrp
XM_011529369.1:c.1825_1827del	XP_011527671.1:p.Ser609del
XM_011529370.1:c.1825_1827del	XP_011527672.1:p.Ser609del
XM_011529373.1:c.855_857del	XP_011527675.1:p.Cys285_Arg286delinsTrp
XR_937151.1:n.1961_1963del
XR_937152.1:n.1961_1963del
XR_937153.1:n.1842_1844del
XR_937154.1:n.1842_1844del
XR_937155.1:n.1763_1765del
XR_937157.1:n.1765_1767del
NM_001282447.2:c.1818_1820del	NP_001269376.1:p.Cys606_Arg607delinsTrp
NM_025220.4:c.1818_1820del	NP_079496.1:p.Cys606_Arg607delinsTrp
NM_153202.3:c.1818_1820del	NP_694882.1:p.Cys606_Arg607delinsTrp
XM_011529373.2:c.855_857del	XP_011527675.1:p.Cys285_Arg286delinsTrp
XR_001754405.1:n.1929_1931del
XR_002958534.1:n.2038_2040del
NM_001282447.3:c.1818_1820del	NP_001269376.1:p.Cys606_Arg607delinsTrp
NM_025220.5:c.1818_1820del MANE Select	NP_079496.1:p.Cys606_Arg607delinsTrp
NM_153202.4:c.1818_1820del	NP_694882.1:p.Cys606_Arg607delinsTrp