Canonical Allele Identifier: CA2577278164

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534282del , CM000664.2:g.232534282del	GRCh38
NC_000002.11:g.233398992del , CM000664.1:g.233398992del	GRCh37
NC_000002.10:g.233107236del	NCBI36
NG_008028.1:g.13071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1311del MANE Select	ENSP00000258385.3:p.Ala438LeufsTer12
ENST00000258385.7:c.1311del	ENSP00000258385.3:p.Ala438LeufsTer12
ENST00000441621.6:c.*493del	ENSP00000408819.2:n.*493del
ENST00000446616.1:c.*952del	ENSP00000410801.1:n.*952del
ENST00000543200.5:c.1266del	ENSP00000438380.1:p.Ala423LeufsTer12
NM_000751.2:c.1311del	NP_000742.1:p.Ala438LeufsTer12
NM_001256657.1:c.1266del	NP_001243586.1:p.Ala423LeufsTer12
NM_001311195.1:c.729del	NP_001298124.1:p.Ala244LeufsTer12
NM_001311196.1:c.1008del	NP_001298125.1:p.Ala337LeufsTer12
NR_046333.1:c.-4294966240del
NR_046334.1:c.-4294965961del
XM_011510524.1:c.930del	XP_011508826.1:p.Ala311LeufsTer12
XM_011510524.2:c.930del	XP_011508826.1:p.Ala311LeufsTer12
NM_000751.3:c.1311del MANE Select	NP_000742.1:p.Ala438LeufsTer12
NM_001311195.2:c.729del	NP_001298124.1:p.Ala244LeufsTer12
NM_001311196.2:c.1008del	NP_001298125.1:p.Ala337LeufsTer12
NM_001256657.2:c.1266del	NP_001243586.1:p.Ala423LeufsTer12