Canonical Allele Identifier: CA645294047
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 426844
ClinVar RCV Id: RCV000489678
dbSNP Id: rs1085307830

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60781131del , CM000670.2:g.60781131del GRCh38
NC_000008.10:g.61693690del , CM000670.1:g.61693690del GRCh37
NC_000008.9:g.61856244del NCBI36
NG_007009.1:g.107352del , LRG_176:g.107352del

Transcript Alleles

HGVS Amino-acid change
ENST00000695848.1:n.2310del
ENST00000695849.1:n.2310del
ENST00000695853.1:c.1797del ENSP00000512218.1:p.Lys601ArgfsTer7
ENST00000700671.1:c.1797del ENSP00000515139.1:p.Lys601ArgfsTer7
ENST00000423902.7:c.1797del MANE Select ENSP00000392028.1:p.Lys601ArgfsTer7
ENST00000423902.6:c.1797del ENSP00000392028.1:p.Lys601ArgfsTer7
ENST00000524602.5:c.1716+81del ENSP00000437061.1:n.1716+81del
ENST00000525508.1:c.1797del ENSP00000436027.1:p.Lys601ArgfsTer7
ENST00000527900.1:c.117+81del ENSP00000433336.1:n.117+81del
NM_001316690.1:c.1716+81del NP_001303619.1:n.1716+81del
NM_017780.3:c.1797del NP_060250.2:p.Lys601ArgfsTer7
XM_011517553.1:c.1797del XP_011515855.1:p.Lys601ArgfsTer7
XM_011517554.1:c.1797del XP_011515856.1:p.Lys601ArgfsTer7
XM_011517555.1:c.1797del XP_011515857.1:p.Lys601ArgfsTer7
XM_011517556.1:c.1797del XP_011515858.1:p.Lys601ArgfsTer7
XM_011517560.1:c.1797del XP_011515862.1:p.Lys601ArgfsTer7
XM_011517553.2:c.1797del XP_011515855.1:p.Lys601ArgfsTer7
XM_011517554.3:c.1797del XP_011515856.1:p.Lys601ArgfsTer7
XM_011517555.2:c.1797del XP_011515857.1:p.Lys601ArgfsTer7
XM_011517560.2:c.1797del XP_011515862.1:p.Lys601ArgfsTer7
XM_017013612.1:c.1797del XP_016869101.1:p.Lys601ArgfsTer7
XM_017013613.1:c.1797del XP_016869102.1:p.Lys601ArgfsTer7
NM_017780.4:c.1797del MANE Select NP_060250.2:p.Lys601ArgfsTer7