Canonical Allele Identifier: CA645546301

Gene: CHD7

Linked Data

• COSMIC: COSM4616112

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860956_60860958del , CM000670.2:g.60860956_60860958del	GRCh38
NC_000008.10:g.61773515_61773517del , CM000670.1:g.61773515_61773517del	GRCh37
NC_000008.9:g.61936069_61936071del	NCBI36
NG_007009.1:g.187177_187179del , LRG_176:g.187177_187179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.837_839del
ENST00000695851.1:n.41_43del
ENST00000695853.1:c.*720_*722del	ENSP00000512218.1:n.*720_*722del
ENST00000423902.7:c.7661_7663del MANE Select	ENSP00000392028.1:p.Thr2554del
ENST00000423902.6:c.7661_7663del	ENSP00000392028.1:p.Thr2554del
ENST00000524602.5:c.1717-1273_1717-1271del	ENSP00000437061.1:n.1717-1273_1717-1271del
ENST00000531695.1:n.85_87del
ENST00000618450.1:n.53_55del
NM_001316690.1:c.1717-1273_1717-1271del	NP_001303619.1:n.1717-1273_1717-1271del
NM_017780.3:c.7661_7663del	NP_060250.2:p.Thr2554del
XM_011517553.1:c.7751_7753del	XP_011515855.1:p.Thr2584del
XM_011517554.1:c.7751_7753del	XP_011515856.1:p.Thr2584del
XM_011517555.1:c.7748_7750del	XP_011515857.1:p.Thr2583del
XM_011517556.1:c.7699-1240_7699-1238del	XP_011515858.1:n.7699-1240_7699-1238del
XM_011517557.1:c.5738_5740del	XP_011515859.1:p.Thr1913del
XM_011517558.1:c.5288_5290del	XP_011515860.1:p.Thr1763del
XM_011517559.1:c.4496_4498del	XP_011515861.1:p.Thr1499del
XM_011517553.2:c.7751_7753del	XP_011515855.1:p.Thr2584del
XM_011517554.3:c.7751_7753del	XP_011515856.1:p.Thr2584del
XM_011517555.2:c.7748_7750del	XP_011515857.1:p.Thr2583del
XM_017013612.1:c.7751_7753del	XP_016869101.1:p.Thr2584del
XM_017013613.1:c.7658_7660del	XP_016869102.1:p.Thr2553del
NM_017780.4:c.7661_7663del MANE Select	NP_060250.2:p.Thr2554del