Canonical Allele Identifier: CA4760772

Gene: CHD7

Linked Data

• dbSNP Id: rs374380640
• ExAC: 8:61769037 CGGAGGA / C
• gnomAD v2: 8-61769037-CGGAGGA-C
• MyVariant Identifiers: chr8:g.61769038_61769043del (hg19) ; chr8:g.60856479_60856484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856489_60856494del , CM000670.2:g.60856489_60856494del	GRCh38
NC_000008.10:g.61769048_61769053del , CM000670.1:g.61769048_61769053del	GRCh37
NC_000008.9:g.61931602_61931607del	NCBI36
NG_007009.1:g.182710_182715del , LRG_176:g.182710_182715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.385_390del
ENST00000695853.1:c.*268_*273del	ENSP00000512218.1:n.*268_*273del
ENST00000423902.7:c.7209_7214del MANE Select	ENSP00000392028.1:p.Arg2404_Arg2405del
ENST00000423902.6:c.7209_7214del	ENSP00000392028.1:p.Arg2404_Arg2405del
ENST00000524602.5:c.1717-5740_1717-5735del	ENSP00000437061.1:n.1717-5740_1717-5735del
ENST00000529472.1:n.390_395del
NM_001316690.1:c.1717-5740_1717-5735del	NP_001303619.1:n.1717-5740_1717-5735del
NM_017780.3:c.7209_7214del	NP_060250.2:p.Arg2404_Arg2405del
XM_011517553.1:c.7299_7304del	XP_011515855.1:p.Arg2434_Arg2435del
XM_011517554.1:c.7299_7304del	XP_011515856.1:p.Arg2434_Arg2435del
XM_011517555.1:c.7296_7301del	XP_011515857.1:p.Arg2433_Arg2434del
XM_011517556.1:c.7299_7304del	XP_011515858.1:p.Arg2434_Arg2435del
XM_011517557.1:c.5286_5291del	XP_011515859.1:p.Arg1763_Arg1764del
XM_011517558.1:c.4836_4841del	XP_011515860.1:p.Arg1613_Arg1614del
XM_011517559.1:c.4044_4049del	XP_011515861.1:p.Arg1349_Arg1350del
XM_011517553.2:c.7299_7304del	XP_011515855.1:p.Arg2434_Arg2435del
XM_011517554.3:c.7299_7304del	XP_011515856.1:p.Arg2434_Arg2435del
XM_011517555.2:c.7296_7301del	XP_011515857.1:p.Arg2433_Arg2434del
XM_017013612.1:c.7299_7304del	XP_016869101.1:p.Arg2434_Arg2435del
XM_017013613.1:c.7206_7211del	XP_016869102.1:p.Arg2403_Arg2404del
NM_017780.4:c.7209_7214del MANE Select	NP_060250.2:p.Arg2404_Arg2405del