Canonical Allele Identifier: CA2842944084

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534024dup , CM000664.2:g.232534024dup	GRCh38
NC_000002.11:g.233398734dup , CM000664.1:g.233398734dup	GRCh37
NC_000002.10:g.233106978dup	NCBI36
NG_008028.1:g.12813dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1141dup MANE Select	ENSP00000258385.3:p.Leu381ProfsTer18
ENST00000258385.7:c.1141dup	ENSP00000258385.3:p.Leu381ProfsTer18
ENST00000441621.6:c.*323dup	ENSP00000408819.2:n.*323dup
ENST00000446616.1:c.*782dup	ENSP00000410801.1:n.*782dup
ENST00000543200.5:c.1096dup	ENSP00000438380.1:p.Leu366ProfsTer18
NM_000751.2:c.1141dup	NP_000742.1:p.Leu381ProfsTer18
NM_001256657.1:c.1096dup	NP_001243586.1:p.Leu366ProfsTer18
NM_001311195.1:c.559dup	NP_001298124.1:p.Leu187ProfsTer18
NM_001311196.1:c.838dup	NP_001298125.1:p.Leu280ProfsTer18
NR_046333.1:c.-4294966410dup
NR_046334.1:c.-4294966131dup
XM_011510524.1:c.760dup	XP_011508826.1:p.Leu254ProfsTer18
XM_011510524.2:c.760dup	XP_011508826.1:p.Leu254ProfsTer18
NM_000751.3:c.1141dup MANE Select	NP_000742.1:p.Leu381ProfsTer18
NM_001311195.2:c.559dup	NP_001298124.1:p.Leu187ProfsTer18
NM_001311196.2:c.838dup	NP_001298125.1:p.Leu280ProfsTer18
NM_001256657.2:c.1096dup	NP_001243586.1:p.Leu366ProfsTer18