Canonical Allele Identifier: CA177325916

Gene: CHD7

Linked Data

• dbSNP Id: rs144569260
• gnomAD v2: 8-61773834-ATCT-A
• gnomAD v3: 8-60861275-ATCT-A
• gnomAD v4: 8-60861275-ATCT-A
• MyVariant Identifiers: chr8:g.61773835_61773837del (hg19) ; chr8:g.60861276_60861278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861281_60861283del , CM000670.2:g.60861281_60861283del	GRCh38
NC_000008.10:g.61773840_61773842del , CM000670.1:g.61773840_61773842del	GRCh37
NC_000008.9:g.61936394_61936396del	NCBI36
NG_007009.1:g.187502_187504del , LRG_176:g.187502_187504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1006+156_1006+158del
ENST00000695851.1:n.210+156_210+158del
ENST00000695853.1:c.*889+156_*889+158del	ENSP00000512218.1:n.*889+156_*889+158del
ENST00000423902.7:c.7830+156_7830+158del MANE Select	ENSP00000392028.1:n.7830+156_7830+158del
ENST00000423902.6:c.7830+156_7830+158del	ENSP00000392028.1:n.7830+156_7830+158del
ENST00000524602.5:c.1717-948_1717-946del	ENSP00000437061.1:n.1717-948_1717-946del
ENST00000531695.1:n.410_412del
ENST00000618450.1:n.378_380del
NM_001316690.1:c.1717-948_1717-946del	NP_001303619.1:n.1717-948_1717-946del
NM_017780.3:c.7830+156_7830+158del	NP_060250.2:n.7830+156_7830+158del
XM_011517553.1:c.7920+156_7920+158del	XP_011515855.1:n.7920+156_7920+158del
XM_011517554.1:c.7920+156_7920+158del	XP_011515856.1:n.7920+156_7920+158del
XM_011517555.1:c.7917+156_7917+158del	XP_011515857.1:n.7917+156_7917+158del
XM_011517556.1:c.7699-915_7699-913del	XP_011515858.1:n.7699-915_7699-913del
XM_011517557.1:c.5907+156_5907+158del	XP_011515859.1:n.5907+156_5907+158del
XM_011517558.1:c.5457+156_5457+158del	XP_011515860.1:n.5457+156_5457+158del
XM_011517559.1:c.4665+156_4665+158del	XP_011515861.1:n.4665+156_4665+158del
XM_011517553.2:c.7920+156_7920+158del	XP_011515855.1:n.7920+156_7920+158del
XM_011517554.3:c.7920+156_7920+158del	XP_011515856.1:n.7920+156_7920+158del
XM_011517555.2:c.7917+156_7917+158del	XP_011515857.1:n.7917+156_7917+158del
XM_017013612.1:c.7920+156_7920+158del	XP_016869101.1:n.7920+156_7920+158del
XM_017013613.1:c.7827+156_7827+158del	XP_016869102.1:n.7827+156_7827+158del
NM_017780.4:c.7830+156_7830+158del MANE Select	NP_060250.2:n.7830+156_7830+158del