Canonical Allele Identifier: CA634329924

Gene: ADAM33

Linked Data

• dbSNP Id: rs1568800521
• gnomAD v2: 20-3652582-CT-C
• MyVariant Identifiers: chr20:g.3652583del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671936del , CM000682.2:g.3671936del	GRCh38
NC_000020.10:g.3652583del , CM000682.1:g.3652583del	GRCh37
NC_000020.9:g.3600583del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1647del MANE Select	ENSP00000348912.3:p.Asp550MetfsTer?
ENST00000350009.6:c.1647del	ENSP00000322550.5:p.Asp550MetfsTer?
ENST00000356518.6:c.1647del	ENSP00000348912.2:p.Asp550MetfsTer?
ENST00000379861.8:c.1647del	ENSP00000369190.4:p.Asp550MetfsTer?
ENST00000466620.5:n.1286del
ENST00000617732.1:c.*632-479del	ENSP00000483343.1:n.*632-479del
ENST00000619289.4:c.1287del	ENSP00000484600.1:p.Asp430MetfsTer?
NM_001282447.1:c.1647del	NP_001269376.1:p.Asp550MetfsTer?
NM_025220.3:c.1647del	NP_079496.1:p.Asp550MetfsTer?
NM_153202.2:c.1647del	NP_694882.1:p.Asp550MetfsTer?
XM_005260843.1:c.1686del	XP_005260900.1:p.Asp563MetfsTer?
XM_006723639.1:c.1686del	XP_006723702.1:p.Asp563MetfsTer?
XM_006723640.1:c.1677del	XP_006723703.1:p.Asp560MetfsTer?
XM_011529366.1:c.1683del	XP_011527668.1:p.Asp562MetfsTer?
XM_011529367.1:c.1644del	XP_011527669.1:p.Asp549MetfsTer?
XM_011529368.1:c.1686del	XP_011527670.1:p.Asp563MetfsTer?
XM_011529369.1:c.1654del	XP_011527671.1:p.Arg552AspfsTer?
XM_011529370.1:c.1654del	XP_011527672.1:p.Arg552AspfsTer?
XM_011529373.1:c.684del	XP_011527675.1:p.Asp229MetfsTer?
XR_937151.1:n.1790del
XR_937152.1:n.1790del
XR_937153.1:n.1671del
XR_937154.1:n.1671del
XR_937155.1:n.1592del
XR_937157.1:n.1594del
NM_001282447.2:c.1647del	NP_001269376.1:p.Asp550MetfsTer?
NM_025220.4:c.1647del	NP_079496.1:p.Asp550MetfsTer?
NM_153202.3:c.1647del	NP_694882.1:p.Asp550MetfsTer?
XM_011529373.2:c.684del	XP_011527675.1:p.Asp229MetfsTer?
XR_001754405.1:n.1758del
XR_002958534.1:n.1867del
NM_001282447.3:c.1647del	NP_001269376.1:p.Asp550MetfsTer?
NM_025220.5:c.1647del MANE Select	NP_079496.1:p.Asp550MetfsTer?
NM_153202.4:c.1647del	NP_694882.1:p.Asp550MetfsTer?