Canonical Allele Identifier: CA1788130256

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865394_60865396delinsCCT , CM000670.2:g.60865394_60865396delinsCCT	GRCh38
NC_000008.10:g.61777953_61777955delinsCCT , CM000670.1:g.61777953_61777955delinsCCT	GRCh37
NC_000008.9:g.61940507_61940509delinsCCT	NCBI36
NG_007009.1:g.191615_191617delinsCCT , LRG_176:g.191615_191617delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1631_1633delinsCCT
ENST00000695852.1:n.562_564delinsCCT
ENST00000695853.1:c.*1514_*1516delinsCCT	ENSP00000512218.1:n.*1514_*1516delinsCCT
ENST00000423902.7:c.8455_8457delinsCCT MANE Select	ENSP00000392028.1:p.Pro2819=
ENST00000423902.6:c.8455_8457delinsCCT	ENSP00000392028.1:p.Pro2819=
ENST00000524602.5:c.2308_2310delinsCCT	ENSP00000437061.1:p.Pro770=
ENST00000528280.1:n.501_503delinsCCT
NM_001316690.1:c.2308_2310delinsCCT	NP_001303619.1:p.Pro770=
NM_017780.3:c.8455_8457delinsCCT	NP_060250.2:p.Pro2819=
XM_011517553.1:c.8545_8547delinsCCT	XP_011515855.1:p.Pro2849=
XM_011517554.1:c.8545_8547delinsCCT	XP_011515856.1:p.Pro2849=
XM_011517555.1:c.8542_8544delinsCCT	XP_011515857.1:p.Pro2848=
XM_011517556.1:c.8323_8325delinsCCT	XP_011515858.1:p.Pro2775=
XM_011517557.1:c.6532_6534delinsCCT	XP_011515859.1:p.Pro2178=
XM_011517558.1:c.6082_6084delinsCCT	XP_011515860.1:p.Pro2028=
XM_011517559.1:c.5290_5292delinsCCT	XP_011515861.1:p.Pro1764=
XM_011517553.2:c.8545_8547delinsCCT	XP_011515855.1:p.Pro2849=
XM_011517554.3:c.8545_8547delinsCCT	XP_011515856.1:p.Pro2849=
XM_011517555.2:c.8542_8544delinsCCT	XP_011515857.1:p.Pro2848=
XM_017013612.1:c.8545_8547delinsCCT	XP_016869101.1:p.Pro2849=
XM_017013613.1:c.8452_8454delinsCCT	XP_016869102.1:p.Pro2818=
NM_017780.4:c.8455_8457delinsCCT MANE Select	NP_060250.2:p.Pro2819=