Canonical Allele Identifier: CA2580078843

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2500762
• ClinVar RCV Id: RCV003225674

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861006_60861013del , CM000670.2:g.60861006_60861013del	GRCh38
NC_000008.10:g.61773565_61773572del , CM000670.1:g.61773565_61773572del	GRCh37
NC_000008.9:g.61936119_61936126del	NCBI36
NG_007009.1:g.187227_187234del , LRG_176:g.187227_187234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.887_894del
ENST00000695851.1:n.91_98del
ENST00000695853.1:c.*770_*777del	ENSP00000512218.1:n.*770_*777del
ENST00000423902.7:c.7711_7718del MANE Select	ENSP00000392028.1:p.Val2571SerfsTer2
ENST00000423902.6:c.7711_7718del	ENSP00000392028.1:p.Val2571SerfsTer2
ENST00000524602.5:c.1717-1223_1717-1216del	ENSP00000437061.1:n.1717-1223_1717-1216del
ENST00000531695.1:n.135_142del
ENST00000618450.1:n.103_110del
NM_001316690.1:c.1717-1223_1717-1216del	NP_001303619.1:n.1717-1223_1717-1216del
NM_017780.3:c.7711_7718del	NP_060250.2:p.Val2571SerfsTer2
XM_011517553.1:c.7801_7808del	XP_011515855.1:p.Val2601SerfsTer2
XM_011517554.1:c.7801_7808del	XP_011515856.1:p.Val2601SerfsTer2
XM_011517555.1:c.7798_7805del	XP_011515857.1:p.Val2600SerfsTer2
XM_011517556.1:c.7699-1190_7699-1183del	XP_011515858.1:n.7699-1190_7699-1183del
XM_011517557.1:c.5788_5795del	XP_011515859.1:p.Val1930SerfsTer2
XM_011517558.1:c.5338_5345del	XP_011515860.1:p.Val1780SerfsTer2
XM_011517559.1:c.4546_4553del	XP_011515861.1:p.Val1516SerfsTer2
XM_011517553.2:c.7801_7808del	XP_011515855.1:p.Val2601SerfsTer2
XM_011517554.3:c.7801_7808del	XP_011515856.1:p.Val2601SerfsTer2
XM_011517555.2:c.7798_7805del	XP_011515857.1:p.Val2600SerfsTer2
XM_017013612.1:c.7801_7808del	XP_016869101.1:p.Val2601SerfsTer2
XM_017013613.1:c.7708_7715del	XP_016869102.1:p.Val2570SerfsTer2
NM_017780.4:c.7711_7718del MANE Select	NP_060250.2:p.Val2571SerfsTer2