Canonical Allele Identifier: CA11268492
Community Standard Title: NM_003183.6(ADAM17):c.1915-146C>T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.9493971G>A , CM000664.2:g.9493971G>A GRCh38
NC_000002.11:g.9634100G>A , CM000664.1:g.9634100G>A GRCh37
NC_000002.10:g.9551551G>A NCBI36
NG_029873.1:g.66818C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003183.6:c.1915-146C>T (ADAM17) MANE Select NP_003174.3:n.1915-146C>T
ENST00000310823.8:c.1915-146C>T (ADAM17) MANE Select ENSP00000309968.3:n.1915-146C>T
NM_001382777.1:c.1255-146C>T (ADAM17) NP_001369706.1:n.1255-146C>T
NM_001382778.1:c.1018-146C>T (ADAM17) NP_001369707.1:n.1018-146C>T
NM_003183.4:c.1915-146C>T (ADAM17) NP_003174.3:n.1915-146C>T
ENST00000310823.7:c.1915-146C>T (ADAM17) ENSP00000309968.3:n.1915-146C>T
ENST00000481367.5:c.750-731G>A (IAH1)
ENST00000647610.1:c.*1375-146C>T (ADAM17) ENSP00000497929.1:n.*1375-146C>T
ENST00000647979.1:c.*1445-146C>T (ADAM17) ENSP00000497542.1:n.*1445-146C>T
ENST00000648548.1:n.2142-146C>T (ADAM17)
ENST00000648857.1:n.1985-146C>T (ADAM17)
ENST00000649227.1:c.*1676-146C>T (ADAM17) ENSP00000497830.1:n.*1676-146C>T
ENST00000649686.1:n.1725-146C>T (ADAM17)
ENST00000650116.1:c.*1696-146C>T (ADAM17) ENSP00000497592.1:n.*1696-146C>T
ENST00000699315.1:n.1705-146C>T (ADAM17)
ENST00000699316.1:c.*1818-146C>T (ADAM17) ENSP00000514295.1:n.*1818-146C>T
ENST00000699317.1:c.*3228-146C>T (ADAM17) ENSP00000514296.1:n.*3228-146C>T
ENST00000699318.1:c.1825-146C>T (ADAM17) ENSP00000514297.1:n.1825-146C>T
ENST00000699319.1:n.4153-146C>T (ADAM17)
ENST00000699320.1:n.1056-146C>T (ADAM17)
ENST00000699321.1:c.*1296-146C>T (ADAM17) ENSP00000514298.1:n.*1296-146C>T
XM_011510375.1:c.1822-146C>T (ADAM17) XP_011508677.1:n.1822-146C>T
XM_011510375.3:c.1822-146C>T (ADAM17) XP_011508677.1:n.1822-146C>T
XM_011510376.1:c.1255-146C>T (ADAM17) XP_011508678.1:n.1255-146C>T
XM_011510376.3:c.1255-146C>T (ADAM17) XP_011508678.1:n.1255-146C>T
XM_011510377.1:c.1018-146C>T (ADAM17) XP_011508679.1:n.1018-146C>T
XM_011510378.1:c.1018-146C>T (ADAM17) XP_011508680.1:n.1018-146C>T
XM_017004785.2:c.1018-146C>T (ADAM17) XP_016860274.1:n.1018-146C>T
XM_017004786.2:c.1018-146C>T (ADAM17) XP_016860275.1:n.1018-146C>T
XM_024453056.1:c.1018-146C>T (ADAM17) XP_024308824.1:n.1018-146C>T
XR_001738718.1:n.846-731G>A (IAH1)
XR_001738721.1:n.846-731G>A (IAH1)
XR_001738722.1:n.761-731G>A (IAH1)
XR_001738723.1:n.761-731G>A (IAH1)
XR_001738724.1:n.761-731G>A (IAH1)
XR_002959279.1:n.1418-731G>A (IAH1)
XR_002959280.1:n.1418-731G>A (IAH1)
XR_002959281.1:n.1418-731G>A (IAH1)
XR_002959282.1:n.846-731G>A (IAH1)
XR_426950.2:n.846-731G>A (IAH1)
XR_426953.2:n.761-731G>A (IAH1)
XR_426953.3:n.761-731G>A (IAH1)
XR_922675.1:n.846-731G>A (IAH1)
XR_922676.1:n.846-731G>A (IAH1)
XR_922677.1:n.846-731G>A (IAH1)
XR_922678.1:n.846-731G>A (IAH1)