Canonical Allele Identifier: CA645373275
Gene: ADAM33 HGNC NCBI

Linked Data

ClinVar Variation Id: 221543
ClinVar RCV Id: RCV000207077

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3672811_3673618del , CM000682.2:g.3672811_3673618del GRCh38
NC_000020.10:g.3653458_3654265del , CM000682.1:g.3653458_3654265del GRCh37
NC_000020.9:g.3601458_3602265del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356518.7:c.947_1222del
ENST00000350009.6:c.947_1222del
ENST00000356518.6:c.947_1222del
ENST00000379861.8:c.947_1222del
ENST00000466620.5:n.131_861del
ENST00000617732.1:c.*631+695_*632-1353del ENSP00000483343.1:n.*631+695_*632-1353del
ENST00000619289.4:c.806+227_862del
NM_001282447.1:c.947_1222del
NM_025220.3:c.947_1222del
NM_153202.2:c.947_1222del
XM_005260843.1:c.986_1261del
XM_006723639.1:c.986_1261del
XM_006723640.1:c.986_1252del
XM_006723644.2:c.986_1261del
XM_011529366.1:c.983_1258del
XM_011529367.1:c.944_1219del
XM_011529368.1:c.986_1261del
XM_011529369.1:c.986_1261del
XM_011529370.1:c.986_1261del
XM_011529371.1:c.986_1338del
XM_011529372.1:c.986_1391del
XM_011529373.1:c.-8_259del
XR_937151.1:n.1090_1365del
XR_937152.1:n.1090_1365del
XR_937153.1:n.1090_1442del
XR_937154.1:n.1176_1442del
XR_937155.1:n.1097_1363del
XR_937157.1:n.1090_1365del
NM_001282447.2:c.947_1222del
NM_025220.4:c.947_1222del
NM_153202.3:c.947_1222del
XM_011529371.2:c.986_1338del
XM_011529373.2:c.-8_259del
XM_017028080.2:c.1072_1338del
XM_017028081.2:c.1033_1299del
XM_017028082.1:c.986_*355del
XM_017028083.1:c.986_*395del
XR_001754405.1:n.1090_1365del
XR_002958534.1:n.1090_1442del
NM_001282447.3:c.947_1222del
NM_025220.5:c.947_1222del
NM_153202.4:c.947_1222del