Canonical Allele Identifier: CA2568225796
Gene: CHD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60853322_60853323insT , CM000670.2:g.60853322_60853323insT GRCh38
NC_000008.10:g.61765881_61765882insT , CM000670.1:g.61765881_61765882insT GRCh37
NC_000008.9:g.61928435_61928436insT NCBI36
NG_007009.1:g.179543_179544insT , LRG_176:g.179543_179544insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.6597_6598insT ENSP00000512218.1:p.Gly2200TrpfsTer9
ENST00000423902.7:c.6597_6598insT MANE Select ENSP00000392028.1:p.Gly2200TrpfsTer9
ENST00000423902.6:c.6597_6598insT ENSP00000392028.1:p.Gly2200TrpfsTer9
ENST00000524602.5:c.1717-8907_1717-8906insT ENSP00000437061.1:n.1717-8907_1717-8906insT
NM_001316690.1:c.1717-8907_1717-8906insT NP_001303619.1:n.1717-8907_1717-8906insT
NM_017780.3:c.6597_6598insT NP_060250.2:p.Gly2200TrpfsTer9
XM_011517553.1:c.6687_6688insT XP_011515855.1:p.Gly2230TrpfsTer9
XM_011517554.1:c.6687_6688insT XP_011515856.1:p.Gly2230TrpfsTer9
XM_011517555.1:c.6687_6688insT XP_011515857.1:p.Gly2230TrpfsTer9
XM_011517556.1:c.6687_6688insT XP_011515858.1:p.Gly2230TrpfsTer9
XM_011517557.1:c.4674_4675insT XP_011515859.1:p.Gly1559TrpfsTer9
XM_011517558.1:c.4224_4225insT XP_011515860.1:p.Gly1409TrpfsTer9
XM_011517559.1:c.3432_3433insT XP_011515861.1:p.Gly1145TrpfsTer9
XM_011517553.2:c.6687_6688insT XP_011515855.1:p.Gly2230TrpfsTer9
XM_011517554.3:c.6687_6688insT XP_011515856.1:p.Gly2230TrpfsTer9
XM_011517555.2:c.6687_6688insT XP_011515857.1:p.Gly2230TrpfsTer9
XM_017013612.1:c.6687_6688insT XP_016869101.1:p.Gly2230TrpfsTer9
XM_017013613.1:c.6597_6598insT XP_016869102.1:p.Gly2200TrpfsTer9
NM_017780.4:c.6597_6598insT MANE Select NP_060250.2:p.Gly2200TrpfsTer9