Canonical Allele Identifier: CA2687400629

Gene: CHD7

Linked Data

• gnomAD v4: 8-60861265-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861265_60861266insA , CM000670.2:g.60861265_60861266insA	GRCh38
NC_000008.10:g.61773824_61773825insA , CM000670.1:g.61773824_61773825insA	GRCh37
NC_000008.9:g.61936378_61936379insA	NCBI36
NG_007009.1:g.187486_187487insA , LRG_176:g.187486_187487insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1006+140_1006+141insA
ENST00000695851.1:n.210+140_210+141insA
ENST00000695853.1:c.*889+140_*889+141insA	ENSP00000512218.1:n.*889+140_*889+141insA
ENST00000423902.7:c.7830+140_7830+141insA MANE Select	ENSP00000392028.1:n.7830+140_7830+141insA
ENST00000423902.6:c.7830+140_7830+141insA	ENSP00000392028.1:n.7830+140_7830+141insA
ENST00000524602.5:c.1717-964_1717-963insA	ENSP00000437061.1:n.1717-964_1717-963insA
ENST00000531695.1:n.394_395insA
ENST00000618450.1:n.362_363insA
NM_001316690.1:c.1717-964_1717-963insA	NP_001303619.1:n.1717-964_1717-963insA
NM_017780.3:c.7830+140_7830+141insA	NP_060250.2:n.7830+140_7830+141insA
XM_011517553.1:c.7920+140_7920+141insA	XP_011515855.1:n.7920+140_7920+141insA
XM_011517554.1:c.7920+140_7920+141insA	XP_011515856.1:n.7920+140_7920+141insA
XM_011517555.1:c.7917+140_7917+141insA	XP_011515857.1:n.7917+140_7917+141insA
XM_011517556.1:c.7699-931_7699-930insA	XP_011515858.1:n.7699-931_7699-930insA
XM_011517557.1:c.5907+140_5907+141insA	XP_011515859.1:n.5907+140_5907+141insA
XM_011517558.1:c.5457+140_5457+141insA	XP_011515860.1:n.5457+140_5457+141insA
XM_011517559.1:c.4665+140_4665+141insA	XP_011515861.1:n.4665+140_4665+141insA
XM_011517553.2:c.7920+140_7920+141insA	XP_011515855.1:n.7920+140_7920+141insA
XM_011517554.3:c.7920+140_7920+141insA	XP_011515856.1:n.7920+140_7920+141insA
XM_011517555.2:c.7917+140_7917+141insA	XP_011515857.1:n.7917+140_7917+141insA
XM_017013612.1:c.7920+140_7920+141insA	XP_016869101.1:n.7920+140_7920+141insA
XM_017013613.1:c.7827+140_7827+141insA	XP_016869102.1:n.7827+140_7827+141insA
NM_017780.4:c.7830+140_7830+141insA MANE Select	NP_060250.2:n.7830+140_7830+141insA