Canonical Allele Identifier: CA16609551
Gene: CHRND HGNC NCBI

Linked Data

dbSNP Id: rs1060499782
gnomAD v3: 2-232535129-GGA-G
gnomAD v4: 2-232535129-GGA-G
MyVariant Identifiers: chr2:g.233399842_233399843del (hg19) chr2:g.233399840_233399841del (hg19) chr2:g.232535132_232535133del (hg38) chr2:g.232535130_232535131del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232535132_232535133del , CM000664.2:g.232535132_232535133del GRCh38
NC_000002.11:g.233399842_233399843del , CM000664.1:g.233399842_233399843del GRCh37
NC_000002.10:g.233108086_233108087del NCBI36
NG_008028.1:g.13921_13922del
NG_012954.1:g.406_407del
NG_012954.2:g.441_442del

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.1374_1375del MANE Select ENSP00000258385.3:p.Lys459ArgfsTer?
ENST00000258385.7:c.1374_1375del ENSP00000258385.3:p.Lys459ArgfsTer?
ENST00000441621.6:c.*556_*557del ENSP00000408819.2:n.*556_*557del
ENST00000446616.1:c.*1015_*1016del ENSP00000410801.1:n.*1015_*1016del
ENST00000543200.5:c.1329_1330del ENSP00000438380.1:p.Lys444ArgfsTer?
NM_000751.2:c.1374_1375del NP_000742.1:p.Lys459ArgfsTer?
NM_001256657.1:c.1329_1330del NP_001243586.1:p.Lys444ArgfsTer?
NM_001311195.1:c.792_793del NP_001298124.1:p.Lys265ArgfsTer?
NM_001311196.1:c.1071_1072del NP_001298125.1:p.Lys358ArgfsTer?
NR_046333.1:c.-4294966177_-4294966176del
NR_046334.1:c.-4294965898_-4294965897del
XM_011510524.1:c.993_994del XP_011508826.1:p.Lys332ArgfsTer?
XM_011510524.2:c.993_994del XP_011508826.1:p.Lys332ArgfsTer?
NM_000751.3:c.1374_1375del MANE Select NP_000742.1:p.Lys459ArgfsTer?
NM_001311195.2:c.792_793del NP_001298124.1:p.Lys265ArgfsTer?
NM_001311196.2:c.1071_1072del NP_001298125.1:p.Lys358ArgfsTer?
NM_001256657.2:c.1329_1330del NP_001243586.1:p.Lys444ArgfsTer?
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