Canonical Allele Identifier: CA1114440638

Gene: CHD7

Linked Data

• dbSNP Id: rs1805955287
• gnomAD v3: 8-60861235-GTTTCCTGGTCTCAAACA-G
• gnomAD v4: 8-60861235-GTTTCCTGGTCTCAAACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861241_60861257del , CM000670.2:g.60861241_60861257del	GRCh38
NC_000008.10:g.61773800_61773816del , CM000670.1:g.61773800_61773816del	GRCh37
NC_000008.9:g.61936354_61936370del	NCBI36
NG_007009.1:g.187462_187478del , LRG_176:g.187462_187478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1006+116_1006+132del
ENST00000695851.1:n.210+116_210+132del
ENST00000695853.1:c.*889+116_*889+132del	ENSP00000512218.1:n.*889+116_*889+132del
ENST00000423902.7:c.7830+116_7830+132del MANE Select	ENSP00000392028.1:n.7830+116_7830+132del
ENST00000423902.6:c.7830+116_7830+132del	ENSP00000392028.1:n.7830+116_7830+132del
ENST00000524602.5:c.1717-988_1717-972del	ENSP00000437061.1:n.1717-988_1717-972del
ENST00000531695.1:n.370_386del
ENST00000618450.1:n.338_354del
NM_001316690.1:c.1717-988_1717-972del	NP_001303619.1:n.1717-988_1717-972del
NM_017780.3:c.7830+116_7830+132del	NP_060250.2:n.7830+116_7830+132del
XM_011517553.1:c.7920+116_7920+132del	XP_011515855.1:n.7920+116_7920+132del
XM_011517554.1:c.7920+116_7920+132del	XP_011515856.1:n.7920+116_7920+132del
XM_011517555.1:c.7917+116_7917+132del	XP_011515857.1:n.7917+116_7917+132del
XM_011517556.1:c.7699-955_7699-939del	XP_011515858.1:n.7699-955_7699-939del
XM_011517557.1:c.5907+116_5907+132del	XP_011515859.1:n.5907+116_5907+132del
XM_011517558.1:c.5457+116_5457+132del	XP_011515860.1:n.5457+116_5457+132del
XM_011517559.1:c.4665+116_4665+132del	XP_011515861.1:n.4665+116_4665+132del
XM_011517553.2:c.7920+116_7920+132del	XP_011515855.1:n.7920+116_7920+132del
XM_011517554.3:c.7920+116_7920+132del	XP_011515856.1:n.7920+116_7920+132del
XM_011517555.2:c.7917+116_7917+132del	XP_011515857.1:n.7917+116_7917+132del
XM_017013612.1:c.7920+116_7920+132del	XP_016869101.1:n.7920+116_7920+132del
XM_017013613.1:c.7827+116_7827+132del	XP_016869102.1:n.7827+116_7827+132del
NM_017780.4:c.7830+116_7830+132del MANE Select	NP_060250.2:n.7830+116_7830+132del