Canonical Allele Identifier: CA634329865

Gene: ADAM33

Linked Data

• dbSNP Id: rs1343210410
• gnomAD v2: 20-3652347-T-TA
• gnomAD v4: 20-3671700-T-TA
• MyVariant Identifiers: chr20:g.3652347_3652348insA (hg19) ; chr20:g.3671700_3671701insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671701dup , CM000682.2:g.3671701dup	GRCh38
NC_000020.10:g.3652348dup , CM000682.1:g.3652348dup	GRCh37
NC_000020.9:g.3600348dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1785dup MANE Select	ENSP00000348912.3:p.Thr596TyrfsTer?
ENST00000350009.6:c.1785dup	ENSP00000322550.5:p.Thr596TyrfsTer?
ENST00000356518.6:c.1785dup	ENSP00000348912.2:p.Thr596TyrfsTer?
ENST00000379861.8:c.1785dup	ENSP00000369190.4:p.Thr596TyrfsTer?
ENST00000466620.5:n.1424dup
ENST00000617732.1:c.*632-244dup	ENSP00000483343.1:n.*632-244dup
ENST00000619289.4:c.1425dup	ENSP00000484600.1:p.Thr476TyrfsTer?
NM_001282447.1:c.1785dup	NP_001269376.1:p.Thr596TyrfsTer?
NM_025220.3:c.1785dup	NP_079496.1:p.Thr596TyrfsTer?
NM_153202.2:c.1785dup	NP_694882.1:p.Thr596TyrfsTer?
XM_005260843.1:c.1824dup	XP_005260900.1:p.Thr609TyrfsTer?
XM_006723639.1:c.1824dup	XP_006723702.1:p.Thr609TyrfsTer?
XM_006723640.1:c.1815dup	XP_006723703.1:p.Thr606TyrfsTer?
XM_011529366.1:c.1821dup	XP_011527668.1:p.Thr608TyrfsTer?
XM_011529367.1:c.1782dup	XP_011527669.1:p.Thr595TyrfsTer?
XM_011529368.1:c.1824dup	XP_011527670.1:p.Thr609TyrfsTer?
XM_011529369.1:c.1792dup	XP_011527671.1:p.Tyr598LeufsTer5
XM_011529370.1:c.1792dup	XP_011527672.1:p.Tyr598LeufsTer5
XM_011529373.1:c.822dup	XP_011527675.1:p.Thr275TyrfsTer?
XR_937151.1:n.1928dup
XR_937152.1:n.1928dup
XR_937153.1:n.1809dup
XR_937154.1:n.1809dup
XR_937155.1:n.1730dup
XR_937157.1:n.1732dup
NM_001282447.2:c.1785dup	NP_001269376.1:p.Thr596TyrfsTer?
NM_025220.4:c.1785dup	NP_079496.1:p.Thr596TyrfsTer?
NM_153202.3:c.1785dup	NP_694882.1:p.Thr596TyrfsTer?
XM_011529373.2:c.822dup	XP_011527675.1:p.Thr275TyrfsTer?
XR_001754405.1:n.1896dup
XR_002958534.1:n.2005dup
NM_001282447.3:c.1785dup	NP_001269376.1:p.Thr596TyrfsTer?
NM_025220.5:c.1785dup MANE Select	NP_079496.1:p.Thr596TyrfsTer?
NM_153202.4:c.1785dup	NP_694882.1:p.Thr596TyrfsTer?