Canonical Allele Identifier: CA1788121401

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861275_60861278delinsATCT , CM000670.2:g.60861275_60861278delinsATCT	GRCh38
NC_000008.10:g.61773834_61773837delinsATCT , CM000670.1:g.61773834_61773837delinsATCT	GRCh37
NC_000008.9:g.61936388_61936391delinsATCT	NCBI36
NG_007009.1:g.187496_187499delinsATCT , LRG_176:g.187496_187499delinsATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1006+150_1006+153delinsATCT
ENST00000695851.1:n.210+150_210+153delinsATCT
ENST00000695853.1:c.*889+150_*889+153delinsATCT	ENSP00000512218.1:n.*889+150_*889+153delinsATCT
ENST00000423902.7:c.7830+150_7830+153delinsATCT MANE Select	ENSP00000392028.1:n.7830+150_7830+153delinsATCT
ENST00000423902.6:c.7830+150_7830+153delinsATCT	ENSP00000392028.1:n.7830+150_7830+153delinsATCT
ENST00000524602.5:c.1717-954_1717-951delinsATCT	ENSP00000437061.1:n.1717-954_1717-951delinsATCT
ENST00000531695.1:n.404_407delinsATCT
ENST00000618450.1:n.372_375delinsATCT
NM_001316690.1:c.1717-954_1717-951delinsATCT	NP_001303619.1:n.1717-954_1717-951delinsATCT
NM_017780.3:c.7830+150_7830+153delinsATCT	NP_060250.2:n.7830+150_7830+153delinsATCT
XM_011517553.1:c.7920+150_7920+153delinsATCT	XP_011515855.1:n.7920+150_7920+153delinsATCT
XM_011517554.1:c.7920+150_7920+153delinsATCT	XP_011515856.1:n.7920+150_7920+153delinsATCT
XM_011517555.1:c.7917+150_7917+153delinsATCT	XP_011515857.1:n.7917+150_7917+153delinsATCT
XM_011517556.1:c.7699-921_7699-918delinsATCT	XP_011515858.1:n.7699-921_7699-918delinsATCT
XM_011517557.1:c.5907+150_5907+153delinsATCT	XP_011515859.1:n.5907+150_5907+153delinsATCT
XM_011517558.1:c.5457+150_5457+153delinsATCT	XP_011515860.1:n.5457+150_5457+153delinsATCT
XM_011517559.1:c.4665+150_4665+153delinsATCT	XP_011515861.1:n.4665+150_4665+153delinsATCT
XM_011517553.2:c.7920+150_7920+153delinsATCT	XP_011515855.1:n.7920+150_7920+153delinsATCT
XM_011517554.3:c.7920+150_7920+153delinsATCT	XP_011515856.1:n.7920+150_7920+153delinsATCT
XM_011517555.2:c.7917+150_7917+153delinsATCT	XP_011515857.1:n.7917+150_7917+153delinsATCT
XM_017013612.1:c.7920+150_7920+153delinsATCT	XP_016869101.1:n.7920+150_7920+153delinsATCT
XM_017013613.1:c.7827+150_7827+153delinsATCT	XP_016869102.1:n.7827+150_7827+153delinsATCT
NM_017780.4:c.7830+150_7830+153delinsATCT MANE Select	NP_060250.2:n.7830+150_7830+153delinsATCT