Canonical Allele Identifier: CA2663623393

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534096-T-TCAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534098_232534102dup , CM000664.2:g.232534098_232534102dup	GRCh38
NC_000002.11:g.233398808_233398812dup , CM000664.1:g.233398808_233398812dup	GRCh37
NC_000002.10:g.233107052_233107056dup	NCBI36
NG_008028.1:g.12887_12891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1215_1219dup MANE Select	ENSP00000258385.3:p.Arg407GlnfsTer31
ENST00000258385.7:c.1215_1219dup	ENSP00000258385.3:p.Arg407GlnfsTer31
ENST00000441621.6:c.*397_*401dup	ENSP00000408819.2:n.*397_*401dup
ENST00000446616.1:c.*856_*860dup	ENSP00000410801.1:n.*856_*860dup
ENST00000543200.5:c.1170_1174dup	ENSP00000438380.1:p.Arg392GlnfsTer31
NM_000751.2:c.1215_1219dup	NP_000742.1:p.Arg407GlnfsTer31
NM_001256657.1:c.1170_1174dup	NP_001243586.1:p.Arg392GlnfsTer31
NM_001311195.1:c.633_637dup	NP_001298124.1:p.Arg213GlnfsTer31
NM_001311196.1:c.912_916dup	NP_001298125.1:p.Arg306GlnfsTer31
NR_046333.1:c.-4294966336_-4294966332dup
NR_046334.1:c.-4294966057_-4294966053dup
XM_011510524.1:c.834_838dup	XP_011508826.1:p.Arg280GlnfsTer31
XM_011510524.2:c.834_838dup	XP_011508826.1:p.Arg280GlnfsTer31
NM_000751.3:c.1215_1219dup MANE Select	NP_000742.1:p.Arg407GlnfsTer31
NM_001311195.2:c.633_637dup	NP_001298124.1:p.Arg213GlnfsTer31
NM_001311196.2:c.912_916dup	NP_001298125.1:p.Arg306GlnfsTer31
NM_001256657.2:c.1170_1174dup	NP_001243586.1:p.Arg392GlnfsTer31