Canonical Allele Identifier: CA6276428

Gene: DIXDC1

Linked Data

• dbSNP Id: rs781924410
• ExAC: 11:111887489 CTTACGCCCTTCAT / C
• gnomAD v2: 11-111887489-CTTACGCCCTTCAT-C
• MyVariant Identifiers: chr11:g.111887490_111887502del (hg19) ; chr11:g.112016766_112016778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016766_112016778del , CM000673.2:g.112016766_112016778del	GRCh38
NC_000011.9:g.111887490_111887502del , CM000673.1:g.111887490_111887502del	GRCh37
NC_000011.8:g.111392700_111392712del	NCBI36
NG_033127.1:g.94624_94636del
NG_033127.2:g.94623_94635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1832_1844del MANE Select	ENSP00000394352.3:p.Leu611ArgfsTer11
ENST00000440460.6:c.1832_1844del	ENSP00000394352.3:p.Leu611ArgfsTer11
ENST00000526500.5:n.828_840del
ENST00000615255.1:c.1199_1211del	ENSP00000480808.1:p.Leu400ArgfsTer11
ENST00000618522.4:n.1185_1197del
NM_001037954.3:c.1832_1844del	NP_001033043.1:p.Leu611ArgfsTer11
NM_033425.4:c.1199_1211del	NP_219493.1:p.Leu400ArgfsTer11
XM_005277726.3:c.1832_1844del	XP_005277783.1:p.Leu611ArgfsTer11
XM_005277727.3:c.1829_1841del	XP_005277784.1:p.Leu610ArgfsTer11
XM_005277728.3:c.1199_1211del	XP_005277785.1:p.Leu400ArgfsTer11
XM_011543045.1:c.950_962del	XP_011541347.1:p.Leu317ArgfsTer11
XM_011543046.1:c.944_956del	XP_011541348.1:p.Leu315ArgfsTer11
XM_017018466.2:c.1829_1841del	XP_016873955.1:p.Leu610ArgfsTer11
XM_017018467.1:c.1829_1841del	XP_016873956.1:p.Leu610ArgfsTer11
XM_017018468.1:c.950_962del	XP_016873957.1:p.Leu317ArgfsTer11
XM_017018469.1:c.944_956del	XP_016873958.1:p.Leu315ArgfsTer11
XM_024448742.1:c.1724_1736del	XP_024304510.1:p.Leu575ArgfsTer11
XM_024448743.1:c.1721_1733del	XP_024304511.1:p.Leu574ArgfsTer11
NM_001037954.4:c.1832_1844del MANE Select	NP_001033043.1:p.Leu611ArgfsTer11
NM_033425.5:c.1199_1211del	NP_219493.1:p.Leu400ArgfsTer11