Canonical Allele Identifier: CA9744992

Gene: ADAM33

Linked Data

• ClinVar Variation Id: 402342
• ClinVar RCV Id: RCV000454713 ; RCV000949088
• dbSNP Id: rs17548837
• ExAC: 20:3649632 ATCTGGACT / A
• gnomAD v2: 20-3649632-ATCTGGACT-A
• gnomAD v3: 20-3668985-ATCTGGACT-A
• gnomAD v4: 20-3668985-ATCTGGACT-A
• COSMIC: COSM1684605 ; COSM4659399 ; COSM4967852
• MyVariant Identifiers: chr20:g.3649633_3649640del (hg19) ; chr20:g.3668987_3668994del (hg38) ; chr20:g.3668986_3668993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668987_3668994del , CM000682.2:g.3668987_3668994del	GRCh38
NC_000020.10:g.3649634_3649641del , CM000682.1:g.3649634_3649641del	GRCh37
NC_000020.9:g.3597634_3597641del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.2412_2419del MANE Select	ENSP00000348912.3:p.Gln804HisfsTer13
ENST00000350009.6:c.2334_2341del	ENSP00000322550.5:p.Gln778HisfsTer13
ENST00000356518.6:c.2412_2419del	ENSP00000348912.2:p.Gln804HisfsTer13
ENST00000379861.8:c.2409_2416del	ENSP00000369190.4:p.Gln803HisfsTer13
ENST00000466620.5:n.1973_1980del
ENST00000483362.1:n.1335_1342del
ENST00000617732.1:c.*1096_*1103del	ENSP00000483343.1:n.*1096_*1103del
ENST00000619289.4:c.2049_2056del	ENSP00000484600.1:p.Gln683HisfsTer13
NM_001282447.1:c.2409_2416del	NP_001269376.1:p.Gln803HisfsTer13
NM_025220.3:c.2412_2419del	NP_079496.1:p.Gln804HisfsTer13
NM_153202.2:c.2334_2341del	NP_694882.1:p.Gln778HisfsTer13
XM_005260843.1:c.2451_2458del	XP_005260900.1:p.Gln817HisfsTer13
XM_006723639.1:c.2448_2455del	XP_006723702.1:p.Gln816HisfsTer13
XM_006723640.1:c.2442_2449del	XP_006723703.1:p.Gln814HisfsTer13
XM_011529366.1:c.2448_2455del	XP_011527668.1:p.Gln816HisfsTer13
XM_011529367.1:c.2409_2416del	XP_011527669.1:p.Gln803HisfsTer13
XM_011529368.1:c.2373_2380del	XP_011527670.1:p.Gln791HisfsTer13
XM_011529373.1:c.1449_1456del	XP_011527675.1:p.Gln483HisfsTer13
XR_937151.1:n.2463_2470del
XR_937152.1:n.2460_2467del
XR_937153.1:n.2433_2440del
XR_937154.1:n.2433_2440del
XR_937155.1:n.2354_2361del
XR_937157.1:n.2356_2363del
NM_001282447.2:c.2409_2416del	NP_001269376.1:p.Gln803HisfsTer13
NM_025220.4:c.2412_2419del	NP_079496.1:p.Gln804HisfsTer13
NM_153202.3:c.2334_2341del	NP_694882.1:p.Gln778HisfsTer13
XM_011529373.2:c.1449_1456del	XP_011527675.1:p.Gln483HisfsTer13
XR_001754405.1:n.2520_2527del
XR_002958534.1:n.2629_2636del
NM_001282447.3:c.2409_2416del	NP_001269376.1:p.Gln803HisfsTer13
NM_025220.5:c.2412_2419del MANE Select	NP_079496.1:p.Gln804HisfsTer13
NM_153202.4:c.2334_2341del	NP_694882.1:p.Gln778HisfsTer13