Canonical Allele Identifier: CA2695203158

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861012_60861015del , CM000670.2:g.60861012_60861015del	GRCh38
NC_000008.10:g.61773571_61773574del , CM000670.1:g.61773571_61773574del	GRCh37
NC_000008.9:g.61936125_61936128del	NCBI36
NG_007009.1:g.187233_187236del , LRG_176:g.187233_187236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.893_896del
ENST00000695851.1:n.97_100del
ENST00000695853.1:c.*776_*779del	ENSP00000512218.1:n.*776_*779del
ENST00000423902.7:c.7717_7720del MANE Select	ENSP00000392028.1:p.Asn2573LeufsTer18
ENST00000423902.6:c.7717_7720del	ENSP00000392028.1:p.Asn2573LeufsTer18
ENST00000524602.5:c.1717-1217_1717-1214del	ENSP00000437061.1:n.1717-1217_1717-1214del
ENST00000531695.1:n.141_144del
ENST00000618450.1:n.109_112del
NM_001316690.1:c.1717-1217_1717-1214del	NP_001303619.1:n.1717-1217_1717-1214del
NM_017780.3:c.7717_7720del	NP_060250.2:p.Asn2573LeufsTer18
XM_011517553.1:c.7807_7810del	XP_011515855.1:p.Asn2603LeufsTer18
XM_011517554.1:c.7807_7810del	XP_011515856.1:p.Asn2603LeufsTer18
XM_011517555.1:c.7804_7807del	XP_011515857.1:p.Asn2602LeufsTer18
XM_011517556.1:c.7699-1184_7699-1181del	XP_011515858.1:n.7699-1184_7699-1181del
XM_011517557.1:c.5794_5797del	XP_011515859.1:p.Asn1932LeufsTer18
XM_011517558.1:c.5344_5347del	XP_011515860.1:p.Asn1782LeufsTer18
XM_011517559.1:c.4552_4555del	XP_011515861.1:p.Asn1518LeufsTer18
XM_011517553.2:c.7807_7810del	XP_011515855.1:p.Asn2603LeufsTer18
XM_011517554.3:c.7807_7810del	XP_011515856.1:p.Asn2603LeufsTer18
XM_011517555.2:c.7804_7807del	XP_011515857.1:p.Asn2602LeufsTer18
XM_017013612.1:c.7807_7810del	XP_016869101.1:p.Asn2603LeufsTer18
XM_017013613.1:c.7714_7717del	XP_016869102.1:p.Asn2572LeufsTer18
NM_017780.4:c.7717_7720del MANE Select	NP_060250.2:p.Asn2573LeufsTer18