Canonical Allele Identifier: CA853920786

Gene: CHD7

Linked Data

• dbSNP Id: rs1297447780
• gnomAD v3: 8-60742920-ACCTGGCCAACAACAT-A
• gnomAD v4: 8-60742920-ACCTGGCCAACAACAT-A
• MyVariant Identifiers: chr8:g.61655480_61655494del (hg19) ; chr8:g.60742921_60742935del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60742926_60742940del , CM000670.2:g.60742926_60742940del	GRCh38
NC_000008.10:g.61655485_61655499del , CM000670.1:g.61655485_61655499del	GRCh37
NC_000008.9:g.61818039_61818053del	NCBI36
NG_007009.1:g.69147_69161del , LRG_176:g.69147_69161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2007_2021del
ENST00000695849.1:n.2007_2021del
ENST00000695853.1:c.1494_1508del	ENSP00000512218.1:p.Gln499_Gly503del
ENST00000700671.1:c.1494_1508del	ENSP00000515139.1:p.Gln499_Gly503del
ENST00000423902.7:c.1494_1508del MANE Select	ENSP00000392028.1:p.Gln499_Gly503del
ENST00000423902.6:c.1494_1508del	ENSP00000392028.1:p.Gln499_Gly503del
ENST00000524602.5:c.1494_1508del	ENSP00000437061.1:p.Gln499_Gly503del
ENST00000525508.1:c.1494_1508del	ENSP00000436027.1:p.Gln499_Gly503del
ENST00000527825.1:c.138_152del
NM_001316690.1:c.1494_1508del	NP_001303619.1:p.Gln499_Gly503del
NM_017780.3:c.1494_1508del	NP_060250.2:p.Gln499_Gly503del
XM_011517553.1:c.1494_1508del	XP_011515855.1:p.Gln499_Gly503del
XM_011517554.1:c.1494_1508del	XP_011515856.1:p.Gln499_Gly503del
XM_011517555.1:c.1494_1508del	XP_011515857.1:p.Gln499_Gly503del
XM_011517556.1:c.1494_1508del	XP_011515858.1:p.Gln499_Gly503del
XM_011517560.1:c.1494_1508del	XP_011515862.1:p.Gln499_Gly503del
XM_011517553.2:c.1494_1508del	XP_011515855.1:p.Gln499_Gly503del
XM_011517554.3:c.1494_1508del	XP_011515856.1:p.Gln499_Gly503del
XM_011517555.2:c.1494_1508del	XP_011515857.1:p.Gln499_Gly503del
XM_011517560.2:c.1494_1508del	XP_011515862.1:p.Gln499_Gly503del
XM_017013612.1:c.1494_1508del	XP_016869101.1:p.Gln499_Gly503del
XM_017013613.1:c.1494_1508del	XP_016869102.1:p.Gln499_Gly503del
NM_017780.4:c.1494_1508del MANE Select	NP_060250.2:p.Gln499_Gly503del