Canonical Allele Identifier: CA2663620428

Gene: CHRND

Linked Data

• gnomAD v4: 2-232528303-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528305del , CM000664.2:g.232528305del	GRCh38
NC_000002.11:g.233393015del , CM000664.1:g.233393015del	GRCh37
NC_000002.10:g.233101259del	NCBI36
NG_008028.1:g.7094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.287del MANE Select	ENSP00000258385.3:p.Gly96GlufsTer?
ENST00000258385.7:c.287del	ENSP00000258385.3:p.Gly96GlufsTer?
ENST00000412233.5:c.287del	ENSP00000398143.1:p.Gly96GlufsTer?
ENST00000441621.6:c.287del	ENSP00000408819.2:p.Gly96GlufsTer?
ENST00000446616.1:c.287del	ENSP00000410801.1:p.Gly96GlufsTer?
ENST00000449596.5:c.242del	ENSP00000404950.1:p.Gly81GlufsTer?
ENST00000543200.5:c.242del	ENSP00000438380.1:p.Gly81GlufsTer?
NM_000751.2:c.287del	NP_000742.1:p.Gly96GlufsTer?
NM_001256657.1:c.242del	NP_001243586.1:p.Gly81GlufsTer?
NM_001311195.1:c.16del	NP_001298124.1:p.Glu6LysfsTer24
NM_001311196.1:c.16del	NP_001298125.1:p.Glu6LysfsTer?
NR_046333.1:c.-4294966953del
NR_046334.1:c.-4294966953del
XM_011510524.1:c.16del	XP_011508826.1:p.Glu6LysfsTer24
XM_011510524.2:c.16del	XP_011508826.1:p.Glu6LysfsTer24
NM_000751.3:c.287del MANE Select	NP_000742.1:p.Gly96GlufsTer?
NM_001311195.2:c.16del	NP_001298124.1:p.Glu6LysfsTer24
NM_001311196.2:c.16del	NP_001298125.1:p.Glu6LysfsTer?
NM_001256657.2:c.242del	NP_001243586.1:p.Gly81GlufsTer?