Canonical Allele Identifier: CA944365189

Gene: CHD4

Linked Data

• gnomAD v3: 12-6588544-GAGAC-G
• gnomAD v4: 12-6588544-GAGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6588547_6588550del , CM000674.2:g.6588547_6588550del	GRCh38
NC_000012.11:g.6697713_6697716del , CM000674.1:g.6697713_6697716del	GRCh37
NC_000012.10:g.6567974_6567977del	NCBI36
NG_052823.1:g.23892_23895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357008.7:c.3302-126_3302-123del	ENSP00000349508.3:n.3302-126_3302-123del
ENST00000544040.7:c.3341-126_3341-123del MANE Select	ENSP00000440542.2:n.3341-126_3341-123del
ENST00000544484.6:c.3332-126_3332-123del	ENSP00000440392.1:n.3332-126_3332-123del
ENST00000642594.1:c.3267-126_3267-123del
ENST00000642810.1:c.3281-126_3281-123del	ENSP00000495160.1:n.3281-126_3281-123del
ENST00000642879.1:c.3281-126_3281-123del	ENSP00000494456.1:n.3281-126_3281-123del
ENST00000643335.1:c.3320-126_3320-123del	ENSP00000496358.1:n.3320-126_3320-123del
ENST00000643815.1:c.2058-126_2058-123del
ENST00000644137.1:c.3320-126_3320-123del	ENSP00000495816.1:n.3320-126_3320-123del
ENST00000644289.1:c.3308-126_3308-123del	ENSP00000496707.1:n.3308-126_3308-123del
ENST00000644352.1:c.1199-126_1199-123del	ENSP00000494981.1:n.1199-126_1199-123del
ENST00000644356.1:n.1296-126_1296-123del
ENST00000644480.2:c.3320-126_3320-123del	ENSP00000493629.2:n.3320-126_3320-123del
ENST00000644801.1:c.*17-126_*17-123del	ENSP00000496660.1:n.*17-126_*17-123del
ENST00000645005.1:c.3341-126_3341-123del	ENSP00000493471.1:n.3341-126_3341-123del
ENST00000645022.1:c.3320-126_3320-123del	ENSP00000496163.1:n.3320-126_3320-123del
ENST00000645095.1:c.3341-126_3341-123del	ENSP00000496634.1:n.3341-126_3341-123del
ENST00000645645.1:c.3302-126_3302-123del	ENSP00000496543.1:n.3302-126_3302-123del
ENST00000646070.1:n.124-126_124-123del
ENST00000646268.1:c.3320-126_3320-123del	ENSP00000495023.1:n.3320-126_3320-123del
ENST00000646366.1:n.2921-126_2921-123del
ENST00000646608.1:c.2269-126_2269-123del
ENST00000646806.1:c.3281-126_3281-123del	ENSP00000494574.1:n.3281-126_3281-123del
ENST00000647483.1:c.1342-126_1342-123del
ENST00000357008.6:c.3341-126_3341-123del	ENSP00000349508.2:n.3341-126_3341-123del
ENST00000536301.1:n.48+2990_48+2993del
ENST00000544040.5:c.3320-126_3320-123del	ENSP00000440542.1:n.3320-126_3320-123del
ENST00000544484.5:c.3332-126_3332-123del	ENSP00000440392.1:n.3332-126_3332-123del
NM_001273.3:c.3341-126_3341-123del	NP_001264.2:n.3341-126_3341-123del
NM_001297553.1:c.3320-126_3320-123del	NP_001284482.1:n.3320-126_3320-123del
XM_005253668.3:c.3320-126_3320-123del	XP_005253725.1:n.3320-126_3320-123del
XM_006718958.1:c.3341-126_3341-123del	XP_006719021.1:n.3341-126_3341-123del
XM_006718959.1:c.3341-126_3341-123del	XP_006719022.1:n.3341-126_3341-123del
XM_006718960.1:c.3341-126_3341-123del	XP_006719023.1:n.3341-126_3341-123del
XM_006718961.2:c.3320-126_3320-123del	XP_006719024.1:n.3320-126_3320-123del
XM_006718962.1:c.3302-126_3302-123del	XP_006719025.1:n.3302-126_3302-123del
NM_001273.4:c.3341-126_3341-123del	NP_001264.2:n.3341-126_3341-123del
NM_001297553.2:c.3320-126_3320-123del	NP_001284482.1:n.3320-126_3320-123del
NM_001363606.1:c.3302-126_3302-123del	NP_001350535.1:n.3302-126_3302-123del
XM_017018725.1:c.3341-126_3341-123del	XP_016874214.1:n.3341-126_3341-123del
XM_017018726.1:c.3341-126_3341-123del	XP_016874215.1:n.3341-126_3341-123del
XM_017018727.1:c.3341-126_3341-123del	XP_016874216.1:n.3341-126_3341-123del
XM_017018728.1:c.3341-126_3341-123del	XP_016874217.1:n.3341-126_3341-123del
XM_017018729.1:c.3320-126_3320-123del	XP_016874218.1:n.3320-126_3320-123del
XM_017018730.1:c.3302-126_3302-123del	XP_016874219.1:n.3302-126_3302-123del
XM_017018731.1:c.3302-126_3302-123del	XP_016874220.1:n.3302-126_3302-123del
XM_017018732.1:c.3281-126_3281-123del	XP_016874221.1:n.3281-126_3281-123del
XM_017018733.1:c.3281-126_3281-123del	XP_016874222.1:n.3281-126_3281-123del
XM_017018734.1:c.3281-126_3281-123del	XP_016874223.1:n.3281-126_3281-123del
XM_024448802.1:c.3341-126_3341-123del	XP_024304570.1:n.3341-126_3341-123del
XM_024448803.1:c.3320-126_3320-123del	XP_024304571.1:n.3320-126_3320-123del
XM_024448804.1:c.3302-126_3302-123del	XP_024304572.1:n.3302-126_3302-123del
XM_024448805.1:c.3281-126_3281-123del	XP_024304573.1:n.3281-126_3281-123del
NM_001273.5:c.3341-126_3341-123del MANE Select	NP_001264.2:n.3341-126_3341-123del
NM_001363606.2:c.3302-126_3302-123del	NP_001350535.1:n.3302-126_3302-123del