Canonical Allele Identifier: CA2014147706

Gene: CHD4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6588373_6588374delinsGC , CM000674.2:g.6588373_6588374delinsGC	GRCh38
NC_000012.11:g.6697539_6697540delinsGC , CM000674.1:g.6697539_6697540delinsGC	GRCh37
NC_000012.10:g.6567800_6567801delinsGC	NCBI36
NG_052823.1:g.24066_24067delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357008.7:c.3350_3351delinsGC	ENSP00000349508.3:p.Gly1117=
ENST00000544040.7:c.3389_3390delinsGC MANE Select	ENSP00000440542.2:p.Gly1130=
ENST00000544484.6:c.3380_3381delinsGC	ENSP00000440392.1:p.Gly1127=
ENST00000642594.1:c.3315_3316delinsGC
ENST00000642810.1:c.3329_3330delinsGC	ENSP00000495160.1:p.Gly1110=
ENST00000642879.1:c.3329_3330delinsGC	ENSP00000494456.1:p.Gly1110=
ENST00000643335.1:c.3368_3369delinsGC	ENSP00000496358.1:p.Gly1123=
ENST00000643815.1:c.2106_2107delinsGC
ENST00000644137.1:c.3368_3369delinsGC	ENSP00000495816.1:p.Gly1123=
ENST00000644289.1:c.3356_3357delinsGC	ENSP00000496707.1:p.Gly1119=
ENST00000644352.1:c.1247_1248delinsGC	ENSP00000494981.1:p.Gly416=
ENST00000644356.1:n.1344_1345delinsGC
ENST00000644480.2:c.3368_3369delinsGC	ENSP00000493629.2:p.Gly1123=
ENST00000644801.1:c.*65_*66delinsGC	ENSP00000496660.1:n.*65_*66delinsGC
ENST00000645005.1:c.3389_3390delinsGC	ENSP00000493471.1:p.Gly1130=
ENST00000645022.1:c.3368_3369delinsGC	ENSP00000496163.1:p.Gly1123=
ENST00000645095.1:c.3389_3390delinsGC	ENSP00000496634.1:p.Gly1130=
ENST00000645645.1:c.3350_3351delinsGC	ENSP00000496543.1:p.Gly1117=
ENST00000646070.1:n.172_173delinsGC
ENST00000646268.1:c.3368_3369delinsGC	ENSP00000495023.1:p.Gly1123=
ENST00000646366.1:n.2969_2970delinsGC
ENST00000646608.1:c.2317_2318delinsGC
ENST00000646806.1:c.3329_3330delinsGC	ENSP00000494574.1:p.Gly1110=
ENST00000647483.1:c.1390_1391delinsGC
ENST00000357008.6:c.3389_3390delinsGC	ENSP00000349508.2:p.Gly1130=
ENST00000536301.1:n.48+3164_48+3165delinsGC
ENST00000544040.5:c.3368_3369delinsGC	ENSP00000440542.1:p.Gly1123=
ENST00000544484.5:c.3380_3381delinsGC	ENSP00000440392.1:p.Gly1127=
NM_001273.3:c.3389_3390delinsGC	NP_001264.2:p.Gly1130=
NM_001297553.1:c.3368_3369delinsGC	NP_001284482.1:p.Gly1123=
XM_005253668.3:c.3368_3369delinsGC	XP_005253725.1:p.Gly1123=
XM_006718958.1:c.3389_3390delinsGC	XP_006719021.1:p.Gly1130=
XM_006718959.1:c.3389_3390delinsGC	XP_006719022.1:p.Gly1130=
XM_006718960.1:c.3389_3390delinsGC	XP_006719023.1:p.Gly1130=
XM_006718961.2:c.3368_3369delinsGC	XP_006719024.1:p.Gly1123=
XM_006718962.1:c.3350_3351delinsGC	XP_006719025.1:p.Gly1117=
NM_001273.4:c.3389_3390delinsGC	NP_001264.2:p.Gly1130=
NM_001297553.2:c.3368_3369delinsGC	NP_001284482.1:p.Gly1123=
NM_001363606.1:c.3350_3351delinsGC	NP_001350535.1:p.Gly1117=
XM_017018725.1:c.3389_3390delinsGC	XP_016874214.1:p.Gly1130=
XM_017018726.1:c.3389_3390delinsGC	XP_016874215.1:p.Gly1130=
XM_017018727.1:c.3389_3390delinsGC	XP_016874216.1:p.Gly1130=
XM_017018728.1:c.3389_3390delinsGC	XP_016874217.1:p.Gly1130=
XM_017018729.1:c.3368_3369delinsGC	XP_016874218.1:p.Gly1123=
XM_017018730.1:c.3350_3351delinsGC	XP_016874219.1:p.Gly1117=
XM_017018731.1:c.3350_3351delinsGC	XP_016874220.1:p.Gly1117=
XM_017018732.1:c.3329_3330delinsGC	XP_016874221.1:p.Gly1110=
XM_017018733.1:c.3329_3330delinsGC	XP_016874222.1:p.Gly1110=
XM_017018734.1:c.3329_3330delinsGC	XP_016874223.1:p.Gly1110=
XM_024448802.1:c.3389_3390delinsGC	XP_024304570.1:p.Gly1130=
XM_024448803.1:c.3368_3369delinsGC	XP_024304571.1:p.Gly1123=
XM_024448804.1:c.3350_3351delinsGC	XP_024304572.1:p.Gly1117=
XM_024448805.1:c.3329_3330delinsGC	XP_024304573.1:p.Gly1110=
NM_001273.5:c.3389_3390delinsGC MANE Select	NP_001264.2:p.Gly1130=
NM_001363606.2:c.3350_3351delinsGC	NP_001350535.1:p.Gly1117=