Canonical Allele Identifier: CA1788133434
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs1805307227

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60848477del , CM000670.2:g.60848477del GRCh38
NC_000008.10:g.61761036del , CM000670.1:g.61761036del GRCh37
NC_000008.9:g.61923590del NCBI36
NG_007009.1:g.174698del , LRG_176:g.174698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.5211-38del ENSP00000512218.1:n.5211-38del
ENST00000423902.7:c.5211-38del MANE Select ENSP00000392028.1:n.5211-38del
ENST00000423902.6:c.5211-38del ENSP00000392028.1:n.5211-38del
ENST00000524602.5:c.1717-13752del ENSP00000437061.1:n.1717-13752del
NM_001316690.1:c.1717-13752del NP_001303619.1:n.1717-13752del
NM_017780.3:c.5211-38del NP_060250.2:n.5211-38del
XM_011517553.1:c.5301-38del XP_011515855.1:n.5301-38del
XM_011517554.1:c.5301-38del XP_011515856.1:n.5301-38del
XM_011517555.1:c.5301-38del XP_011515857.1:n.5301-38del
XM_011517556.1:c.5301-38del XP_011515858.1:n.5301-38del
XM_011517557.1:c.3288-38del XP_011515859.1:n.3288-38del
XM_011517558.1:c.2838-38del XP_011515860.1:n.2838-38del
XM_011517559.1:c.2046-38del XP_011515861.1:n.2046-38del
XM_011517553.2:c.5301-38del XP_011515855.1:n.5301-38del
XM_011517554.3:c.5301-38del XP_011515856.1:n.5301-38del
XM_011517555.2:c.5301-38del XP_011515857.1:n.5301-38del
XM_017013612.1:c.5301-38del XP_016869101.1:n.5301-38del
XM_017013613.1:c.5211-38del XP_016869102.1:n.5211-38del
NM_017780.4:c.5211-38del MANE Select NP_060250.2:n.5211-38del