Canonical Allele Identifier: CA581980203
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs1463336535

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60842048_60842049insTCCTTC , CM000670.2:g.60842048_60842049insTCCTTC GRCh38
NC_000008.10:g.61754607_61754608insTCCTTC , CM000670.1:g.61754607_61754608insTCCTTC GRCh37
NC_000008.9:g.61917161_61917162insTCCTTC NCBI36
NG_007009.1:g.168269_168270insTCCTTC , LRG_176:g.168269_168270insTCCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.4846_4847insTCCTTC ENSP00000512218.1:p.Tyr1616delinsPheLeuHis
ENST00000423902.7:c.4846_4847insTCCTTC MANE Select ENSP00000392028.1:p.Tyr1616delinsPheLeuHis
ENST00000423902.6:c.4846_4847insTCCTTC ENSP00000392028.1:p.Tyr1616delinsPheLeuHis
ENST00000524602.5:c.1717-20181_1717-20180insTCCTTC ENSP00000437061.1:n.1717-20181_1717-20180insTCCTTC
NM_001316690.1:c.1717-20181_1717-20180insTCCTTC NP_001303619.1:n.1717-20181_1717-20180insTCCTTC
NM_017780.3:c.4846_4847insTCCTTC NP_060250.2:p.Tyr1616delinsPheLeuHis
XM_011517553.1:c.4846_4847insTCCTTC XP_011515855.1:p.Tyr1616delinsPheLeuHis
XM_011517554.1:c.4846_4847insTCCTTC XP_011515856.1:p.Tyr1616delinsPheLeuHis
XM_011517555.1:c.4846_4847insTCCTTC XP_011515857.1:p.Tyr1616delinsPheLeuHis
XM_011517556.1:c.4846_4847insTCCTTC XP_011515858.1:p.Tyr1616delinsPheLeuHis
XM_011517557.1:c.2833_2834insTCCTTC XP_011515859.1:p.Tyr945delinsPheLeuHis
XM_011517558.1:c.2383_2384insTCCTTC XP_011515860.1:p.Tyr795delinsPheLeuHis
XM_011517559.1:c.1591_1592insTCCTTC XP_011515861.1:p.Tyr531delinsPheLeuHis
XM_011517560.1:c.4846_4847insTCCTTC XP_011515862.1:p.Tyr1616delinsPheLeuHis
XM_011517553.2:c.4846_4847insTCCTTC XP_011515855.1:p.Tyr1616delinsPheLeuHis
XM_011517554.3:c.4846_4847insTCCTTC XP_011515856.1:p.Tyr1616delinsPheLeuHis
XM_011517555.2:c.4846_4847insTCCTTC XP_011515857.1:p.Tyr1616delinsPheLeuHis
XM_011517560.2:c.4846_4847insTCCTTC XP_011515862.1:p.Tyr1616delinsPheLeuHis
XM_017013612.1:c.4846_4847insTCCTTC XP_016869101.1:p.Tyr1616delinsPheLeuHis
XM_017013613.1:c.4846_4847insTCCTTC XP_016869102.1:p.Tyr1616delinsPheLeuHis
NM_017780.4:c.4846_4847insTCCTTC MANE Select NP_060250.2:p.Tyr1616delinsPheLeuHis