Canonical Allele Identifier: CA310997901

Gene: ADAM33

Linked Data

• dbSNP Id: rs768654318
• gnomAD v2: 20-3651084-ATG-A
• gnomAD v3: 20-3670437-ATG-A
• gnomAD v4: 20-3670437-ATG-A
• MyVariant Identifiers: chr20:g.3651085_3651086del (hg19) ; chr20:g.3670438_3670439del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3670440_3670441del , CM000682.2:g.3670440_3670441del	GRCh38
NC_000020.10:g.3651087_3651088del , CM000682.1:g.3651087_3651088del	GRCh37
NC_000020.9:g.3599087_3599088del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.2240+567_2240+568del MANE Select	ENSP00000348912.3:n.2240+567_2240+568del
ENST00000350009.6:c.2162+567_2162+568del	ENSP00000322550.5:n.2162+567_2162+568del
ENST00000356518.6:c.2240+567_2240+568del	ENSP00000348912.2:n.2240+567_2240+568del
ENST00000379861.8:c.2240+567_2240+568del	ENSP00000369190.4:n.2240+567_2240+568del
ENST00000466620.5:n.1801+567_1801+568del
ENST00000483362.1:n.187_188del
ENST00000617732.1:c.*927+567_*927+568del	ENSP00000483343.1:n.*927+567_*927+568del
ENST00000619289.4:c.1880+567_1880+568del	ENSP00000484600.1:n.1880+567_1880+568del
NM_001282447.1:c.2240+567_2240+568del	NP_001269376.1:n.2240+567_2240+568del
NM_025220.3:c.2240+567_2240+568del	NP_079496.1:n.2240+567_2240+568del
NM_153202.2:c.2162+567_2162+568del	NP_694882.1:n.2162+567_2162+568del
XM_005260843.1:c.2279+567_2279+568del	XP_005260900.1:n.2279+567_2279+568del
XM_006723639.1:c.2279+567_2279+568del	XP_006723702.1:n.2279+567_2279+568del
XM_006723640.1:c.2270+567_2270+568del	XP_006723703.1:n.2270+567_2270+568del
XM_011529366.1:c.2276+567_2276+568del	XP_011527668.1:n.2276+567_2276+568del
XM_011529367.1:c.2237+567_2237+568del	XP_011527669.1:n.2237+567_2237+568del
XM_011529368.1:c.2201+567_2201+568del	XP_011527670.1:n.2201+567_2201+568del
XM_011529373.1:c.1277+567_1277+568del	XP_011527675.1:n.1277+567_1277+568del
XR_937151.1:n.2383+567_2383+568del
XR_937152.1:n.2383+567_2383+568del
XR_937153.1:n.2264+567_2264+568del
XR_937154.1:n.2264+567_2264+568del
XR_937155.1:n.2185+567_2185+568del
XR_937157.1:n.2187+567_2187+568del
NM_001282447.2:c.2240+567_2240+568del	NP_001269376.1:n.2240+567_2240+568del
NM_025220.4:c.2240+567_2240+568del	NP_079496.1:n.2240+567_2240+568del
NM_153202.3:c.2162+567_2162+568del	NP_694882.1:n.2162+567_2162+568del
XM_011529373.2:c.1277+567_1277+568del	XP_011527675.1:n.1277+567_1277+568del
XR_001754405.1:n.2351+567_2351+568del
XR_002958534.1:n.2460+567_2460+568del
NM_001282447.3:c.2240+567_2240+568del	NP_001269376.1:n.2240+567_2240+568del
NM_025220.5:c.2240+567_2240+568del MANE Select	NP_079496.1:n.2240+567_2240+568del
NM_153202.4:c.2162+567_2162+568del	NP_694882.1:n.2162+567_2162+568del