Canonical Allele Identifier: CA2754657214
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232528401_232528402del , CM000664.2:g.232528401_232528402del GRCh38
NC_000002.11:g.233393111_233393112del , CM000664.1:g.233393111_233393112del GRCh37
NC_000002.10:g.233101355_233101356del NCBI36
NG_008028.1:g.7190_7191del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.353+30_353+31del MANE Select ENSP00000258385.3:n.353+30_353+31del
ENST00000258385.7:c.353+30_353+31del ENSP00000258385.3:n.353+30_353+31del
ENST00000412233.5:c.353+30_353+31del ENSP00000398143.1:n.353+30_353+31del
ENST00000441621.6:c.353+30_353+31del ENSP00000408819.2:n.353+30_353+31del
ENST00000446616.1:c.321+62_321+63del ENSP00000410801.1:n.321+62_321+63del
ENST00000449596.5:c.308+30_308+31del ENSP00000404950.1:n.308+30_308+31del
ENST00000543200.5:c.308+30_308+31del ENSP00000438380.1:n.308+30_308+31del
NM_000751.2:c.353+30_353+31del NP_000742.1:n.353+30_353+31del
NM_001256657.1:c.308+30_308+31del NP_001243586.1:n.308+30_308+31del
NM_001311195.1:c.82+30_82+31del NP_001298124.1:n.82+30_82+31del
NM_001311196.1:c.50+62_50+63del NP_001298125.1:n.50+62_50+63del
NR_046333.1:c.-4294966887+30_-4294966887+31del
NR_046334.1:c.-4294966919+62_-4294966919+63del
XM_011510524.1:c.82+30_82+31del XP_011508826.1:n.82+30_82+31del
XM_011510524.2:c.82+30_82+31del XP_011508826.1:n.82+30_82+31del
NM_000751.3:c.353+30_353+31del MANE Select NP_000742.1:n.353+30_353+31del
NM_001311195.2:c.82+30_82+31del NP_001298124.1:n.82+30_82+31del
NM_001311196.2:c.50+62_50+63del NP_001298125.1:n.50+62_50+63del
NM_001256657.2:c.308+30_308+31del NP_001243586.1:n.308+30_308+31del