Canonical Allele Identifier: CA11145208

Gene: ADAM17 IAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.9502392C>T , CM000664.2:g.9502392C>T	GRCh38
NC_000002.11:g.9642521C>T , CM000664.1:g.9642521C>T	GRCh37
NC_000002.10:g.9559972C>T	NCBI36
NG_029873.1:g.58397G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003183.6:c.1545-116G>A (ADAM17) MANE Select	NP_003174.3:n.1545-116G>A
ENST00000310823.8:c.1545-116G>A (ADAM17) MANE Select	ENSP00000309968.3:n.1545-116G>A
NM_001382777.1:c.885-116G>A (ADAM17)	NP_001369706.1:n.885-116G>A
NM_001382778.1:c.648-116G>A (ADAM17)	NP_001369707.1:n.648-116G>A
NM_003183.4:c.1545-116G>A (ADAM17)	NP_003174.3:n.1545-116G>A
ENST00000310823.7:c.1545-116G>A (ADAM17)	ENSP00000309968.3:n.1545-116G>A
ENST00000647610.1:c.*1005-116G>A (ADAM17)	ENSP00000497929.1:n.*1005-116G>A
ENST00000647622.1:n.2646-116G>A (ADAM17)
ENST00000647979.1:c.*1075-116G>A (ADAM17)	ENSP00000497542.1:n.*1075-116G>A
ENST00000648548.1:n.1772-116G>A (ADAM17)
ENST00000648857.1:n.1615-116G>A (ADAM17)
ENST00000649068.1:n.154-116G>A (ADAM17)
ENST00000649068.2:n.3656-116G>A (ADAM17)
ENST00000649227.1:c.*1306-116G>A (ADAM17)	ENSP00000497830.1:n.*1306-116G>A
ENST00000649686.1:n.1355-116G>A (ADAM17)
ENST00000649972.1:n.3735-116G>A (ADAM17)
ENST00000650116.1:c.*1326-116G>A (ADAM17)	ENSP00000497592.1:n.*1326-116G>A
ENST00000650241.1:n.1493-116G>A (ADAM17)
ENST00000699315.1:n.1335-116G>A (ADAM17)
ENST00000699316.1:c.*1448-116G>A (ADAM17)	ENSP00000514295.1:n.*1448-116G>A
ENST00000699317.1:c.*2858-116G>A (ADAM17)	ENSP00000514296.1:n.*2858-116G>A
ENST00000699318.1:c.1455-116G>A (ADAM17)	ENSP00000514297.1:n.1455-116G>A
ENST00000699319.1:n.3783-116G>A (ADAM17)
ENST00000699321.1:c.*926-116G>A (ADAM17)	ENSP00000514298.1:n.*926-116G>A
ENST00000699323.1:n.1646-116G>A (ADAM17)
ENST00000699324.1:c.1545-116G>A (ADAM17)	ENSP00000514300.1:n.1545-116G>A
ENST00000699325.1:c.1545-116G>A (ADAM17)	ENSP00000514301.1:n.1545-116G>A
XM_011510375.1:c.1452-116G>A (ADAM17)	XP_011508677.1:n.1452-116G>A
XM_011510375.3:c.1452-116G>A (ADAM17)	XP_011508677.1:n.1452-116G>A
XM_011510376.1:c.885-116G>A (ADAM17)	XP_011508678.1:n.885-116G>A
XM_011510376.3:c.885-116G>A (ADAM17)	XP_011508678.1:n.885-116G>A
XM_011510377.1:c.648-116G>A (ADAM17)	XP_011508679.1:n.648-116G>A
XM_011510378.1:c.648-116G>A (ADAM17)	XP_011508680.1:n.648-116G>A
XM_017004785.2:c.648-116G>A (ADAM17)	XP_016860274.1:n.648-116G>A
XM_017004786.2:c.648-116G>A (ADAM17)	XP_016860275.1:n.648-116G>A
XM_024453056.1:c.648-116G>A (ADAM17)	XP_024308824.1:n.648-116G>A
XR_001738721.1:n.1005-3053C>T (IAH1)
XR_001738723.1:n.920-3053C>T (IAH1)
XR_001738724.1:n.920-3053C>T (IAH1)
XR_002959279.1:n.6246+851C>T (IAH1)
XR_002959281.1:n.1577-3053C>T (IAH1)
XR_922675.1:n.1005-3053C>T (IAH1)
XR_922676.1:n.1005-3053C>T (IAH1)
XR_922677.1:n.1005-3053C>T (IAH1)
XR_922678.1:n.1005-3053C>T (IAH1)