Canonical Allele Identifier: CA2615974316

Gene: DIXDC1

Linked Data

• gnomAD v4: 11-112016696-CCTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016702_112016705del , CM000673.2:g.112016702_112016705del	GRCh38
NC_000011.9:g.111887426_111887429del , CM000673.1:g.111887426_111887429del	GRCh37
NC_000011.8:g.111392636_111392639del	NCBI36
NG_033127.1:g.94560_94563del
NG_033127.2:g.94559_94562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1768_1771del MANE Select	ENSP00000394352.3:p.Ser590ArgfsTer?
ENST00000440460.6:c.1768_1771del	ENSP00000394352.3:p.Ser590ArgfsTer?
ENST00000526500.5:n.764_767del
ENST00000615255.1:c.1135_1138del	ENSP00000480808.1:p.Ser379ArgfsTer?
ENST00000618522.4:n.1121_1124del
NM_001037954.3:c.1768_1771del	NP_001033043.1:p.Ser590ArgfsTer?
NM_033425.4:c.1135_1138del	NP_219493.1:p.Ser379ArgfsTer?
XM_005277726.3:c.1768_1771del	XP_005277783.1:p.Ser590ArgfsTer?
XM_005277727.3:c.1765_1768del	XP_005277784.1:p.Ser589ArgfsTer?
XM_005277728.3:c.1135_1138del	XP_005277785.1:p.Ser379ArgfsTer?
XM_011543045.1:c.886_889del	XP_011541347.1:p.Ser296ArgfsTer?
XM_011543046.1:c.880_883del	XP_011541348.1:p.Ser294ArgfsTer?
XM_017018466.2:c.1765_1768del	XP_016873955.1:p.Ser589ArgfsTer?
XM_017018467.1:c.1765_1768del	XP_016873956.1:p.Ser589ArgfsTer?
XM_017018468.1:c.886_889del	XP_016873957.1:p.Ser296ArgfsTer?
XM_017018469.1:c.880_883del	XP_016873958.1:p.Ser294ArgfsTer?
XM_024448742.1:c.1660_1663del	XP_024304510.1:p.Ser554ArgfsTer?
XM_024448743.1:c.1657_1660del	XP_024304511.1:p.Ser553ArgfsTer?
NM_001037954.4:c.1768_1771del MANE Select	NP_001033043.1:p.Ser590ArgfsTer?
NM_033425.5:c.1135_1138del	NP_219493.1:p.Ser379ArgfsTer?