Canonical Allele Identifier: CA2663623281

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534009-C-CGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534014_232534016dup , CM000664.2:g.232534014_232534016dup	GRCh38
NC_000002.11:g.233398724_233398726dup , CM000664.1:g.233398724_233398726dup	GRCh37
NC_000002.10:g.233106968_233106970dup	NCBI36
NG_008028.1:g.12803_12805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1131_1133dup MANE Select	ENSP00000258385.3:p.Arg377_Ser378insArg
ENST00000258385.7:c.1131_1133dup	ENSP00000258385.3:p.Arg377_Ser378insArg
ENST00000441621.6:c.*313_*315dup	ENSP00000408819.2:n.*313_*315dup
ENST00000446616.1:c.*772_*774dup	ENSP00000410801.1:n.*772_*774dup
ENST00000543200.5:c.1086_1088dup	ENSP00000438380.1:p.Arg362_Ser363insArg
NM_000751.2:c.1131_1133dup	NP_000742.1:p.Arg377_Ser378insArg
NM_001256657.1:c.1086_1088dup	NP_001243586.1:p.Arg362_Ser363insArg
NM_001311195.1:c.549_551dup	NP_001298124.1:p.Arg183_Ser184insArg
NM_001311196.1:c.828_830dup	NP_001298125.1:p.Arg276_Ser277insArg
NR_046333.1:c.-4294966420_-4294966418dup
NR_046334.1:c.-4294966141_-4294966139dup
XM_011510524.1:c.750_752dup	XP_011508826.1:p.Arg250_Ser251insArg
XM_011510524.2:c.750_752dup	XP_011508826.1:p.Arg250_Ser251insArg
NM_000751.3:c.1131_1133dup MANE Select	NP_000742.1:p.Arg377_Ser378insArg
NM_001311195.2:c.549_551dup	NP_001298124.1:p.Arg183_Ser184insArg
NM_001311196.2:c.828_830dup	NP_001298125.1:p.Arg276_Ser277insArg
NM_001256657.2:c.1086_1088dup	NP_001243586.1:p.Arg362_Ser363insArg