Canonical Allele Identifier: CA2832528749

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60742453_60742480del , CM000670.2:g.60742453_60742480del	GRCh38
NC_000008.10:g.61655012_61655039del , CM000670.1:g.61655012_61655039del	GRCh37
NC_000008.9:g.61817566_61817593del	NCBI36
NG_007009.1:g.68674_68701del , LRG_176:g.68674_68701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.1534_1561del
ENST00000695849.1:n.1534_1561del
ENST00000695853.1:c.1021_1048del	ENSP00000512218.1:p.Asn341LeufsTer2
ENST00000700671.1:c.1021_1048del	ENSP00000515139.1:p.Asn341LeufsTer2
ENST00000423902.7:c.1021_1048del MANE Select	ENSP00000392028.1:p.Asn341LeufsTer2
ENST00000423902.6:c.1021_1048del	ENSP00000392028.1:p.Asn341LeufsTer2
ENST00000524602.5:c.1021_1048del	ENSP00000437061.1:p.Asn341LeufsTer2
ENST00000525508.1:c.1021_1048del	ENSP00000436027.1:p.Asn341LeufsTer2
ENST00000527825.1:c.32-367_32-340del
NM_001316690.1:c.1021_1048del	NP_001303619.1:p.Asn341LeufsTer2
NM_017780.3:c.1021_1048del	NP_060250.2:p.Asn341LeufsTer2
XM_011517553.1:c.1021_1048del	XP_011515855.1:p.Asn341LeufsTer2
XM_011517554.1:c.1021_1048del	XP_011515856.1:p.Asn341LeufsTer2
XM_011517555.1:c.1021_1048del	XP_011515857.1:p.Asn341LeufsTer2
XM_011517556.1:c.1021_1048del	XP_011515858.1:p.Asn341LeufsTer2
XM_011517560.1:c.1021_1048del	XP_011515862.1:p.Asn341LeufsTer2
XM_011517553.2:c.1021_1048del	XP_011515855.1:p.Asn341LeufsTer2
XM_011517554.3:c.1021_1048del	XP_011515856.1:p.Asn341LeufsTer2
XM_011517555.2:c.1021_1048del	XP_011515857.1:p.Asn341LeufsTer2
XM_011517560.2:c.1021_1048del	XP_011515862.1:p.Asn341LeufsTer2
XM_017013612.1:c.1021_1048del	XP_016869101.1:p.Asn341LeufsTer2
XM_017013613.1:c.1021_1048del	XP_016869102.1:p.Asn341LeufsTer2
NM_017780.4:c.1021_1048del MANE Select	NP_060250.2:p.Asn341LeufsTer2