Canonical Allele Identifier: CA129161
Gene: ADAM17 HGNC NCBI

Linked Data

ClinVar Variation Id: 30374
ClinVar RCV Id: RCV000023322
dbSNP Id: rs387906866

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.9527802_9527805del , CM000664.2:g.9527802_9527805del GRCh38
NC_000002.11:g.9667931_9667934del , CM000664.1:g.9667931_9667934del GRCh37
NC_000002.10:g.9585382_9585385del NCBI36
NG_029873.1:g.32987_32990del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649068.2:n.782_785del
ENST00000699315.1:n.393_396del
ENST00000699316.1:c.*506_*509del ENSP00000514295.1:n.*506_*509del
ENST00000699317.1:c.603_606del ENSP00000514296.1:p.Asp201GlufsTer22
ENST00000699318.1:c.603_606del ENSP00000514297.1:p.Asp201GlufsTer11
ENST00000699319.1:n.909_912del
ENST00000699321.1:c.603_606del ENSP00000514298.1:p.Asp201GlufsTer22
ENST00000699323.1:n.684_687del
ENST00000699324.1:c.603_606del ENSP00000514300.1:p.Asp201GlufsTer11
ENST00000699325.1:c.603_606del ENSP00000514301.1:p.Asp201GlufsTer11
ENST00000699326.1:n.716_719del
ENST00000310823.8:c.603_606del MANE Select ENSP00000309968.3:p.Asp201GlufsTer11
ENST00000618923.2:c.603_606del ENSP00000480552.1:p.Asp201GlufsTer11
ENST00000647610.1:c.*133_*136del ENSP00000497929.1:n.*133_*136del
ENST00000647622.1:n.782_785del
ENST00000647979.1:c.*133_*136del ENSP00000497542.1:n.*133_*136del
ENST00000648548.1:n.810_813del
ENST00000648857.1:n.648_651del
ENST00000649227.1:c.*364_*367del ENSP00000497830.1:n.*364_*367del
ENST00000649686.1:n.393_396del
ENST00000649972.1:n.841_844del
ENST00000650116.1:c.*364_*367del ENSP00000497592.1:n.*364_*367del
ENST00000650241.1:n.546_549del
ENST00000310823.7:c.603_606del ENSP00000309968.3:p.Asp201GlufsTer11
ENST00000478059.1:n.772_775del
ENST00000497134.5:c.603_606del ENSP00000418728.1:p.Asp201GlufsTer11
ENST00000618923.1:c.603_606del ENSP00000480552.1:p.Asp201GlufsTer11
NM_003183.4:c.603_606del NP_003174.3:p.Asp201GlufsTer11
XM_011510375.1:c.510_513del XP_011508677.1:p.Asp170GlufsTer11
XM_011510376.1:c.-78_-75del XP_011508678.1:n.-78_-75del
NM_003183.6:c.603_606del MANE Select NP_003174.3:p.Asp201GlufsTer11
XM_011510375.3:c.510_513del XP_011508677.1:p.Asp170GlufsTer11
XM_011510376.3:c.-78_-75del XP_011508678.1:n.-78_-75del
XM_017004785.2:c.-300_-297del XP_016860274.1:n.-300_-297del
XM_017004786.2:c.-320_-317del XP_016860275.1:n.-320_-317del
XM_024453056.1:c.-2247_-2244del XP_024308824.1:n.-2247_-2244del
NM_001382777.1:c.-78_-75del NP_001369706.1:n.-78_-75del
NM_001382778.1:c.-320_-317del NP_001369707.1:n.-320_-317del