Canonical Allele Identifier: CA6276420

Gene: DIXDC1

Linked Data

• dbSNP Id: rs782326248
• ExAC: 11:111887426 TCA / T
• gnomAD v2: 11-111887426-TCA-T
• gnomAD v3: 11-112016702-TCA-T
• gnomAD v4: 11-112016702-TCA-T
• MyVariant Identifiers: chr11:g.111887427_111887428del (hg19) ; chr11:g.112016703_112016704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016705_112016706del , CM000673.2:g.112016705_112016706del	GRCh38
NC_000011.9:g.111887429_111887430del , CM000673.1:g.111887429_111887430del	GRCh37
NC_000011.8:g.111392639_111392640del	NCBI36
NG_033127.1:g.94563_94564del
NG_033127.2:g.94562_94563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1771_1772del MANE Select	ENSP00000394352.3:p.Gln591GlufsTer11
ENST00000440460.6:c.1771_1772del	ENSP00000394352.3:p.Gln591GlufsTer11
ENST00000526500.5:n.767_768del
ENST00000615255.1:c.1138_1139del	ENSP00000480808.1:p.Gln380GlufsTer11
ENST00000618522.4:n.1124_1125del
NM_001037954.3:c.1771_1772del	NP_001033043.1:p.Gln591GlufsTer11
NM_033425.4:c.1138_1139del	NP_219493.1:p.Gln380GlufsTer11
XM_005277726.3:c.1771_1772del	XP_005277783.1:p.Gln591GlufsTer11
XM_005277727.3:c.1768_1769del	XP_005277784.1:p.Gln590GlufsTer11
XM_005277728.3:c.1138_1139del	XP_005277785.1:p.Gln380GlufsTer11
XM_011543045.1:c.889_890del	XP_011541347.1:p.Gln297GlufsTer11
XM_011543046.1:c.883_884del	XP_011541348.1:p.Gln295GlufsTer11
XM_017018466.2:c.1768_1769del	XP_016873955.1:p.Gln590GlufsTer11
XM_017018467.1:c.1768_1769del	XP_016873956.1:p.Gln590GlufsTer11
XM_017018468.1:c.889_890del	XP_016873957.1:p.Gln297GlufsTer11
XM_017018469.1:c.883_884del	XP_016873958.1:p.Gln295GlufsTer11
XM_024448742.1:c.1663_1664del	XP_024304510.1:p.Gln555GlufsTer11
XM_024448743.1:c.1660_1661del	XP_024304511.1:p.Gln554GlufsTer11
NM_001037954.4:c.1771_1772del MANE Select	NP_001033043.1:p.Gln591GlufsTer11
NM_033425.5:c.1138_1139del	NP_219493.1:p.Gln380GlufsTer11