Canonical Allele Identifier: CA1043871402

Gene: ILKAP

Linked Data

• gnomAD v3: 2-238186706-AGG-A
• gnomAD v4: 2-238186706-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238186707_238186708del , CM000664.2:g.238186707_238186708del	GRCh38
NC_000002.11:g.239095348_239095349del , CM000664.1:g.239095348_239095349del	GRCh37
NC_000002.10:g.238760087_238760088del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254654.8:c.426-1421_426-1420del MANE Select	ENSP00000254654.3:n.426-1421_426-1420del
ENST00000254654.7:c.426-1421_426-1420del	ENSP00000254654.3:n.426-1421_426-1420del
ENST00000457149.1:c.420-1421_420-1420del	ENSP00000395301.1:n.420-1421_420-1420del
ENST00000463129.5:n.974-1421_974-1420del
ENST00000466468.5:n.350_351del
ENST00000479400.1:n.465-1421_465-1420del
ENST00000612675.4:c.425+1423_425+1424del	ENSP00000477533.1:n.425+1423_425+1424del
ENST00000622223.4:c.179-2595_179-2594del	ENSP00000477542.1:n.179-2595_179-2594del
NM_030768.2:c.426-1421_426-1420del	NP_110395.1:n.426-1421_426-1420del
XM_005246106.1:c.66-1421_66-1420del	XP_005246163.1:n.66-1421_66-1420del
XM_006712784.1:c.222-1421_222-1420del	XP_006712847.1:n.222-1421_222-1420del
XM_011511946.1:c.30-1421_30-1420del	XP_011510248.1:n.30-1421_30-1420del
XR_923033.1:n.575-1421_575-1420del
XM_011511946.2:c.30-1421_30-1420del	XP_011510248.1:n.30-1421_30-1420del
XM_017005056.2:c.66-1421_66-1420del	XP_016860545.1:n.66-1421_66-1420del
XM_017005057.1:c.66-1421_66-1420del	XP_016860546.1:n.66-1421_66-1420del
XM_017005058.1:c.30-1421_30-1420del	XP_016860547.1:n.30-1421_30-1420del
XM_024453162.1:c.66-1421_66-1420del	XP_024308930.1:n.66-1421_66-1420del
NM_030768.3:c.426-1421_426-1420del MANE Select	NP_110395.1:n.426-1421_426-1420del