Canonical Allele Identifier: CA916080392
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 853417
ClinVar RCV Id: RCV001058218
dbSNP Id: rs1805335711

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60849080del , CM000670.2:g.60849080del GRCh38
NC_000008.10:g.61761639del , CM000670.1:g.61761639del GRCh37
NC_000008.9:g.61924193del NCBI36
NG_007009.1:g.175301del , LRG_176:g.175301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.5330del ENSP00000512218.1:p.Phe1777SerfsTer19
ENST00000423902.7:c.5330del MANE Select ENSP00000392028.1:p.Phe1777SerfsTer19
ENST00000423902.6:c.5330del ENSP00000392028.1:p.Phe1777SerfsTer19
ENST00000524602.5:c.1717-13149del ENSP00000437061.1:n.1717-13149del
NM_001316690.1:c.1717-13149del NP_001303619.1:n.1717-13149del
NM_017780.3:c.5330del NP_060250.2:p.Phe1777SerfsTer19
XM_011517553.1:c.5420del XP_011515855.1:p.Phe1807SerfsTer19
XM_011517554.1:c.5420del XP_011515856.1:p.Phe1807SerfsTer19
XM_011517555.1:c.5420del XP_011515857.1:p.Phe1807SerfsTer19
XM_011517556.1:c.5420del XP_011515858.1:p.Phe1807SerfsTer19
XM_011517557.1:c.3407del XP_011515859.1:p.Phe1136SerfsTer19
XM_011517558.1:c.2957del XP_011515860.1:p.Phe986SerfsTer19
XM_011517559.1:c.2165del XP_011515861.1:p.Phe722SerfsTer19
XM_011517553.2:c.5420del XP_011515855.1:p.Phe1807SerfsTer19
XM_011517554.3:c.5420del XP_011515856.1:p.Phe1807SerfsTer19
XM_011517555.2:c.5420del XP_011515857.1:p.Phe1807SerfsTer19
XM_017013612.1:c.5420del XP_016869101.1:p.Phe1807SerfsTer19
XM_017013613.1:c.5330del XP_016869102.1:p.Phe1777SerfsTer19
NM_017780.4:c.5330del MANE Select NP_060250.2:p.Phe1777SerfsTer19