Canonical Allele Identifier: CA1788120096
Gene: CHD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60860746_60860748delinsCTT , CM000670.2:g.60860746_60860748delinsCTT GRCh38
NC_000008.10:g.61773305_61773307delinsCTT , CM000670.1:g.61773305_61773307delinsCTT GRCh37
NC_000008.9:g.61935859_61935861delinsCTT NCBI36
NG_007009.1:g.186967_186969delinsCTT , LRG_176:g.186967_186969delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.785-158_785-156delinsCTT
ENST00000695853.1:c.*668-158_*668-156delinsCTT ENSP00000512218.1:n.*668-158_*668-156delinsCTT
ENST00000423902.7:c.7609-158_7609-156delinsCTT MANE Select ENSP00000392028.1:n.7609-158_7609-156delinsCTT
ENST00000423902.6:c.7609-158_7609-156delinsCTT ENSP00000392028.1:n.7609-158_7609-156delinsCTT
ENST00000524602.5:c.1717-1483_1717-1481delinsCTT ENSP00000437061.1:n.1717-1483_1717-1481delinsCTT
ENST00000531695.1:n.33-158_33-156delinsCTT
NM_001316690.1:c.1717-1483_1717-1481delinsCTT NP_001303619.1:n.1717-1483_1717-1481delinsCTT
NM_017780.3:c.7609-158_7609-156delinsCTT NP_060250.2:n.7609-158_7609-156delinsCTT
XM_011517553.1:c.7699-158_7699-156delinsCTT XP_011515855.1:n.7699-158_7699-156delinsCTT
XM_011517554.1:c.7699-158_7699-156delinsCTT XP_011515856.1:n.7699-158_7699-156delinsCTT
XM_011517555.1:c.7696-158_7696-156delinsCTT XP_011515857.1:n.7696-158_7696-156delinsCTT
XM_011517556.1:c.7699-1450_7699-1448delinsCTT XP_011515858.1:n.7699-1450_7699-1448delinsCTT
XM_011517557.1:c.5686-158_5686-156delinsCTT XP_011515859.1:n.5686-158_5686-156delinsCTT
XM_011517558.1:c.5236-158_5236-156delinsCTT XP_011515860.1:n.5236-158_5236-156delinsCTT
XM_011517559.1:c.4444-158_4444-156delinsCTT XP_011515861.1:n.4444-158_4444-156delinsCTT
XM_011517553.2:c.7699-158_7699-156delinsCTT XP_011515855.1:n.7699-158_7699-156delinsCTT
XM_011517554.3:c.7699-158_7699-156delinsCTT XP_011515856.1:n.7699-158_7699-156delinsCTT
XM_011517555.2:c.7696-158_7696-156delinsCTT XP_011515857.1:n.7696-158_7696-156delinsCTT
XM_017013612.1:c.7699-158_7699-156delinsCTT XP_016869101.1:n.7699-158_7699-156delinsCTT
XM_017013613.1:c.7606-158_7606-156delinsCTT XP_016869102.1:n.7606-158_7606-156delinsCTT
NM_017780.4:c.7609-158_7609-156delinsCTT MANE Select NP_060250.2:n.7609-158_7609-156delinsCTT