Canonical Allele Identifier: CA177325299

Gene: CHD7

Linked Data

• dbSNP Id: rs1034048369
• gnomAD v2: 8-61773329-CTAGACATTGTTTCTAG-C
• MyVariant Identifiers: chr8:g.61773330_61773345del (hg19) ; chr8:g.60860771_60860786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860773_60860788del , CM000670.2:g.60860773_60860788del	GRCh38
NC_000008.10:g.61773332_61773347del , CM000670.1:g.61773332_61773347del	GRCh37
NC_000008.9:g.61935886_61935901del	NCBI36
NG_007009.1:g.186994_187009del , LRG_176:g.186994_187009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.785-131_785-116del
ENST00000695853.1:c.*668-131_*668-116del	ENSP00000512218.1:n.*668-131_*668-116del
ENST00000423902.7:c.7609-131_7609-116del MANE Select	ENSP00000392028.1:n.7609-131_7609-116del
ENST00000423902.6:c.7609-131_7609-116del	ENSP00000392028.1:n.7609-131_7609-116del
ENST00000524602.5:c.1717-1456_1717-1441del	ENSP00000437061.1:n.1717-1456_1717-1441del
ENST00000531695.1:n.33-131_33-116del
NM_001316690.1:c.1717-1456_1717-1441del	NP_001303619.1:n.1717-1456_1717-1441del
NM_017780.3:c.7609-131_7609-116del	NP_060250.2:n.7609-131_7609-116del
XM_011517553.1:c.7699-131_7699-116del	XP_011515855.1:n.7699-131_7699-116del
XM_011517554.1:c.7699-131_7699-116del	XP_011515856.1:n.7699-131_7699-116del
XM_011517555.1:c.7696-131_7696-116del	XP_011515857.1:n.7696-131_7696-116del
XM_011517556.1:c.7699-1423_7699-1408del	XP_011515858.1:n.7699-1423_7699-1408del
XM_011517557.1:c.5686-131_5686-116del	XP_011515859.1:n.5686-131_5686-116del
XM_011517558.1:c.5236-131_5236-116del	XP_011515860.1:n.5236-131_5236-116del
XM_011517559.1:c.4444-131_4444-116del	XP_011515861.1:n.4444-131_4444-116del
XM_011517553.2:c.7699-131_7699-116del	XP_011515855.1:n.7699-131_7699-116del
XM_011517554.3:c.7699-131_7699-116del	XP_011515856.1:n.7699-131_7699-116del
XM_011517555.2:c.7696-131_7696-116del	XP_011515857.1:n.7696-131_7696-116del
XM_017013612.1:c.7699-131_7699-116del	XP_016869101.1:n.7699-131_7699-116del
XM_017013613.1:c.7606-131_7606-116del	XP_016869102.1:n.7606-131_7606-116del
NM_017780.4:c.7609-131_7609-116del MANE Select	NP_060250.2:n.7609-131_7609-116del