Canonical Allele Identifier: CA634329862

Gene: ADAM33

Linked Data

• dbSNP Id: rs1230002929
• gnomAD v2: 20-3652249-GC-G
• gnomAD v4: 20-3671602-GC-G
• MyVariant Identifiers: chr20:g.3652250del (hg19) ; chr20:g.3671603del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3671604del , CM000682.2:g.3671604del	GRCh38
NC_000020.10:g.3652251del , CM000682.1:g.3652251del	GRCh37
NC_000020.9:g.3600251del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.1883del MANE Select	ENSP00000348912.3:p.Gly628AlafsTer27
ENST00000350009.6:c.1883del	ENSP00000322550.5:p.Gly628AlafsTer?
ENST00000356518.6:c.1883del	ENSP00000348912.2:p.Gly628AlafsTer27
ENST00000379861.8:c.1883del	ENSP00000369190.4:p.Gly628AlafsTer27
ENST00000466620.5:n.1522del
ENST00000617732.1:c.*632-146del	ENSP00000483343.1:n.*632-146del
ENST00000619289.4:c.1523del	ENSP00000484600.1:p.Gly508AlafsTer27
NM_001282447.1:c.1883del	NP_001269376.1:p.Gly628AlafsTer27
NM_025220.3:c.1883del	NP_079496.1:p.Gly628AlafsTer27
NM_153202.2:c.1883del	NP_694882.1:p.Gly628AlafsTer?
XM_005260843.1:c.1922del	XP_005260900.1:p.Gly641AlafsTer27
XM_006723639.1:c.1922del	XP_006723702.1:p.Gly641AlafsTer27
XM_006723640.1:c.1913del	XP_006723703.1:p.Gly638AlafsTer27
XM_011529366.1:c.1919del	XP_011527668.1:p.Gly640AlafsTer27
XM_011529367.1:c.1880del	XP_011527669.1:p.Gly627AlafsTer27
XM_011529368.1:c.1922del	XP_011527670.1:p.Gly641AlafsTer?
XM_011529369.1:c.1890del	XP_011527671.1:p.Arg630SerfsTer?
XM_011529370.1:c.1890del	XP_011527672.1:p.Arg630SerfsTer?
XM_011529373.1:c.920del	XP_011527675.1:p.Gly307AlafsTer27
XR_937151.1:n.2026del
XR_937152.1:n.2026del
XR_937153.1:n.1907del
XR_937154.1:n.1907del
XR_937155.1:n.1828del
XR_937157.1:n.1830del
NM_001282447.2:c.1883del	NP_001269376.1:p.Gly628AlafsTer27
NM_025220.4:c.1883del	NP_079496.1:p.Gly628AlafsTer27
NM_153202.3:c.1883del	NP_694882.1:p.Gly628AlafsTer?
XM_011529373.2:c.920del	XP_011527675.1:p.Gly307AlafsTer27
XR_001754405.1:n.1994del
XR_002958534.1:n.2103del
NM_001282447.3:c.1883del	NP_001269376.1:p.Gly628AlafsTer27
NM_025220.5:c.1883del MANE Select	NP_079496.1:p.Gly628AlafsTer27
NM_153202.4:c.1883del	NP_694882.1:p.Gly628AlafsTer?