Canonical Allele Identifier: CA2663623452

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534127-C-CCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534128_232534131dup , CM000664.2:g.232534128_232534131dup	GRCh38
NC_000002.11:g.233398838_233398841dup , CM000664.1:g.233398838_233398841dup	GRCh37
NC_000002.10:g.233107082_233107085dup	NCBI36
NG_008028.1:g.12917_12920dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1245_1248dup MANE Select	ENSP00000258385.3:p.Ala417HisfsTer10
ENST00000258385.7:c.1245_1248dup	ENSP00000258385.3:p.Ala417HisfsTer10
ENST00000441621.6:c.*427_*430dup	ENSP00000408819.2:n.*427_*430dup
ENST00000446616.1:c.*886_*889dup	ENSP00000410801.1:n.*886_*889dup
ENST00000543200.5:c.1200_1203dup	ENSP00000438380.1:p.Ala402HisfsTer10
NM_000751.2:c.1245_1248dup	NP_000742.1:p.Ala417HisfsTer10
NM_001256657.1:c.1200_1203dup	NP_001243586.1:p.Ala402HisfsTer10
NM_001311195.1:c.663_666dup	NP_001298124.1:p.Ala223HisfsTer10
NM_001311196.1:c.942_945dup	NP_001298125.1:p.Ala316HisfsTer10
NR_046333.1:c.-4294966306_-4294966303dup
NR_046334.1:c.-4294966027_-4294966024dup
XM_011510524.1:c.864_867dup	XP_011508826.1:p.Ala290HisfsTer10
XM_011510524.2:c.864_867dup	XP_011508826.1:p.Ala290HisfsTer10
NM_000751.3:c.1245_1248dup MANE Select	NP_000742.1:p.Ala417HisfsTer10
NM_001311195.2:c.663_666dup	NP_001298124.1:p.Ala223HisfsTer10
NM_001311196.2:c.942_945dup	NP_001298125.1:p.Ala316HisfsTer10
NM_001256657.2:c.1200_1203dup	NP_001243586.1:p.Ala402HisfsTer10