Canonical Allele Identifier: CA2663619732

Gene: CHRND

Linked Data

• gnomAD v4: 2-232535137-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535138dup , CM000664.2:g.232535138dup	GRCh38
NC_000002.11:g.233399848dup , CM000664.1:g.233399848dup	GRCh37
NC_000002.10:g.233108092dup	NCBI36
NG_008028.1:g.13927dup
NG_012954.1:g.412dup
NG_012954.2:g.447dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1380dup MANE Select	ENSP00000258385.3:p.Ser461GlnfsTer?
ENST00000258385.7:c.1380dup	ENSP00000258385.3:p.Ser461GlnfsTer?
ENST00000441621.6:c.*562dup	ENSP00000408819.2:n.*562dup
ENST00000446616.1:c.*1021dup	ENSP00000410801.1:n.*1021dup
ENST00000543200.5:c.1335dup	ENSP00000438380.1:p.Ser446GlnfsTer?
NM_000751.2:c.1380dup	NP_000742.1:p.Ser461GlnfsTer?
NM_001256657.1:c.1335dup	NP_001243586.1:p.Ser446GlnfsTer?
NM_001311195.1:c.798dup	NP_001298124.1:p.Ser267GlnfsTer?
NM_001311196.1:c.1077dup	NP_001298125.1:p.Ser360GlnfsTer?
NR_046333.1:c.-4294966171dup
NR_046334.1:c.-4294965892dup
XM_011510524.1:c.999dup	XP_011508826.1:p.Ser334GlnfsTer?
XM_011510524.2:c.999dup	XP_011508826.1:p.Ser334GlnfsTer?
NM_000751.3:c.1380dup MANE Select	NP_000742.1:p.Ser461GlnfsTer?
NM_001311195.2:c.798dup	NP_001298124.1:p.Ser267GlnfsTer?
NM_001311196.2:c.1077dup	NP_001298125.1:p.Ser360GlnfsTer?
NM_001256657.2:c.1335dup	NP_001243586.1:p.Ser446GlnfsTer?