Canonical Allele Identifier: CA2000524106

Gene: DIXDC1

Linked Data

• dbSNP Id: rs1861607405
• gnomAD v4: 11-112016899-GTATAGTGAGATCTCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016911_112016926del , CM000673.2:g.112016911_112016926del	GRCh38
NC_000011.9:g.111887635_111887650del , CM000673.1:g.111887635_111887650del	GRCh37
NC_000011.8:g.111392845_111392860del	NCBI36
NG_033127.1:g.94769_94784del
NG_033127.2:g.94768_94783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1862+115_1862+130del MANE Select	ENSP00000394352.3:n.1862+115_1862+130del
ENST00000440460.6:c.1862+115_1862+130del	ENSP00000394352.3:n.1862+115_1862+130del
ENST00000526500.5:n.858+115_858+130del
ENST00000615255.1:c.1229+115_1229+130del	ENSP00000480808.1:n.1229+115_1229+130del
ENST00000618522.4:n.1215+115_1215+130del
NM_001037954.3:c.1862+115_1862+130del	NP_001033043.1:n.1862+115_1862+130del
NM_033425.4:c.1229+115_1229+130del	NP_219493.1:n.1229+115_1229+130del
XM_005277726.3:c.1862+115_1862+130del	XP_005277783.1:n.1862+115_1862+130del
XM_005277727.3:c.1859+115_1859+130del	XP_005277784.1:n.1859+115_1859+130del
XM_005277728.3:c.1229+115_1229+130del	XP_005277785.1:n.1229+115_1229+130del
XM_011543045.1:c.980+115_980+130del	XP_011541347.1:n.980+115_980+130del
XM_011543046.1:c.974+115_974+130del	XP_011541348.1:n.974+115_974+130del
XM_017018466.2:c.1859+115_1859+130del	XP_016873955.1:n.1859+115_1859+130del
XM_017018467.1:c.1859+115_1859+130del	XP_016873956.1:n.1859+115_1859+130del
XM_017018468.1:c.980+115_980+130del	XP_016873957.1:n.980+115_980+130del
XM_017018469.1:c.974+115_974+130del	XP_016873958.1:n.974+115_974+130del
XM_024448742.1:c.1754+115_1754+130del	XP_024304510.1:n.1754+115_1754+130del
XM_024448743.1:c.1751+115_1751+130del	XP_024304511.1:n.1751+115_1751+130del
NM_001037954.4:c.1862+115_1862+130del MANE Select	NP_001033043.1:n.1862+115_1862+130del
NM_033425.5:c.1229+115_1229+130del	NP_219493.1:n.1229+115_1229+130del