Canonical Allele Identifier: CA2842944085

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534059dup , CM000664.2:g.232534059dup	GRCh38
NC_000002.11:g.233398769dup , CM000664.1:g.233398769dup	GRCh37
NC_000002.10:g.233107013dup	NCBI36
NG_008028.1:g.12848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1176dup MANE Select	ENSP00000258385.3:p.Leu393AlafsTer6
ENST00000258385.7:c.1176dup	ENSP00000258385.3:p.Leu393AlafsTer6
ENST00000441621.6:c.*358dup	ENSP00000408819.2:n.*358dup
ENST00000446616.1:c.*817dup	ENSP00000410801.1:n.*817dup
ENST00000543200.5:c.1131dup	ENSP00000438380.1:p.Leu378AlafsTer6
NM_000751.2:c.1176dup	NP_000742.1:p.Leu393AlafsTer6
NM_001256657.1:c.1131dup	NP_001243586.1:p.Leu378AlafsTer6
NM_001311195.1:c.594dup	NP_001298124.1:p.Leu199AlafsTer6
NM_001311196.1:c.873dup	NP_001298125.1:p.Leu292AlafsTer6
NR_046333.1:c.-4294966375dup
NR_046334.1:c.-4294966096dup
XM_011510524.1:c.795dup	XP_011508826.1:p.Leu266AlafsTer6
XM_011510524.2:c.795dup	XP_011508826.1:p.Leu266AlafsTer6
NM_000751.3:c.1176dup MANE Select	NP_000742.1:p.Leu393AlafsTer6
NM_001311195.2:c.594dup	NP_001298124.1:p.Leu199AlafsTer6
NM_001311196.2:c.873dup	NP_001298125.1:p.Leu292AlafsTer6
NM_001256657.2:c.1131dup	NP_001243586.1:p.Leu378AlafsTer6