Canonical Allele Identifier: CA16609829
Gene: CHD7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60844998del , CM000670.2:g.60844998del GRCh38
NC_000008.10:g.61757557del , CM000670.1:g.61757557del GRCh37
NC_000008.9:g.61920111del NCBI36
NG_007009.1:g.171219del , LRG_176:g.171219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.4985del ENSP00000512218.1:p.Ser1662ThrfsTer6
ENST00000423902.7:c.4985del MANE Select ENSP00000392028.1:p.Ser1662ThrfsTer6
ENST00000423902.6:c.4985del ENSP00000392028.1:p.Ser1662ThrfsTer6
ENST00000524602.5:c.1717-17231del ENSP00000437061.1:n.1717-17231del
NM_001316690.1:c.1717-17231del NP_001303619.1:n.1717-17231del
NM_017780.3:c.4985del NP_060250.2:p.Ser1662ThrfsTer6
XM_011517553.1:c.4985del XP_011515855.1:p.Ser1662ThrfsTer6
XM_011517554.1:c.4985del XP_011515856.1:p.Ser1662ThrfsTer6
XM_011517555.1:c.4985del XP_011515857.1:p.Ser1662ThrfsTer6
XM_011517556.1:c.4985del XP_011515858.1:p.Ser1662ThrfsTer6
XM_011517557.1:c.2972del XP_011515859.1:p.Ser991ThrfsTer6
XM_011517558.1:c.2522del XP_011515860.1:p.Ser841ThrfsTer6
XM_011517559.1:c.1730del XP_011515861.1:p.Ser577ThrfsTer6
XM_011517553.2:c.4985del XP_011515855.1:p.Ser1662ThrfsTer6
XM_011517554.3:c.4985del XP_011515856.1:p.Ser1662ThrfsTer6
XM_011517555.2:c.4985del XP_011515857.1:p.Ser1662ThrfsTer6
XM_017013612.1:c.4985del XP_016869101.1:p.Ser1662ThrfsTer6
XM_017013613.1:c.4985del XP_016869102.1:p.Ser1662ThrfsTer6
NM_017780.4:c.4985del MANE Select NP_060250.2:p.Ser1662ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'