Canonical Allele Identifier: CA634188387

Gene: ADAM33

Linked Data

• dbSNP Id: rs1302925996
• gnomAD v2: 20-3651079-GTAT-G
• gnomAD v3: 20-3670432-GTAT-G
• gnomAD v4: 20-3670432-GTAT-G
• MyVariant Identifiers: chr20:g.3651080_3651082del (hg19) ; chr20:g.3670433_3670435del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3670436_3670438del , CM000682.2:g.3670436_3670438del	GRCh38
NC_000020.10:g.3651083_3651085del , CM000682.1:g.3651083_3651085del	GRCh37
NC_000020.9:g.3599083_3599085del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2240+571_2240+573del MANE Select	ENSP00000348912.3:n.2240+571_2240+573del
ENST00000350009.6:c.2162+571_2162+573del	ENSP00000322550.5:n.2162+571_2162+573del
ENST00000356518.6:c.2240+571_2240+573del	ENSP00000348912.2:n.2240+571_2240+573del
ENST00000379861.8:c.2240+571_2240+573del	ENSP00000369190.4:n.2240+571_2240+573del
ENST00000466620.5:n.1801+571_1801+573del
ENST00000483362.1:n.191_193del
ENST00000617732.1:c.*927+571_*927+573del	ENSP00000483343.1:n.*927+571_*927+573del
ENST00000619289.4:c.1880+571_1880+573del	ENSP00000484600.1:n.1880+571_1880+573del
NM_001282447.1:c.2240+571_2240+573del	NP_001269376.1:n.2240+571_2240+573del
NM_025220.3:c.2240+571_2240+573del	NP_079496.1:n.2240+571_2240+573del
NM_153202.2:c.2162+571_2162+573del	NP_694882.1:n.2162+571_2162+573del
XM_005260843.1:c.2279+571_2279+573del	XP_005260900.1:n.2279+571_2279+573del
XM_006723639.1:c.2279+571_2279+573del	XP_006723702.1:n.2279+571_2279+573del
XM_006723640.1:c.2270+571_2270+573del	XP_006723703.1:n.2270+571_2270+573del
XM_011529366.1:c.2276+571_2276+573del	XP_011527668.1:n.2276+571_2276+573del
XM_011529367.1:c.2237+571_2237+573del	XP_011527669.1:n.2237+571_2237+573del
XM_011529368.1:c.2201+571_2201+573del	XP_011527670.1:n.2201+571_2201+573del
XM_011529373.1:c.1277+571_1277+573del	XP_011527675.1:n.1277+571_1277+573del
XR_937151.1:n.2383+571_2383+573del
XR_937152.1:n.2383+571_2383+573del
XR_937153.1:n.2264+571_2264+573del
XR_937154.1:n.2264+571_2264+573del
XR_937155.1:n.2185+571_2185+573del
XR_937157.1:n.2187+571_2187+573del
NM_001282447.2:c.2240+571_2240+573del	NP_001269376.1:n.2240+571_2240+573del
NM_025220.4:c.2240+571_2240+573del	NP_079496.1:n.2240+571_2240+573del
NM_153202.3:c.2162+571_2162+573del	NP_694882.1:n.2162+571_2162+573del
XM_011529373.2:c.1277+571_1277+573del	XP_011527675.1:n.1277+571_1277+573del
XR_001754405.1:n.2351+571_2351+573del
XR_002958534.1:n.2460+571_2460+573del
NM_001282447.3:c.2240+571_2240+573del	NP_001269376.1:n.2240+571_2240+573del
NM_025220.5:c.2240+571_2240+573del MANE Select	NP_079496.1:n.2240+571_2240+573del
NM_153202.4:c.2162+571_2162+573del	NP_694882.1:n.2162+571_2162+573del