Canonical Allele Identifier: CA2687397116

Gene: CHD7

Linked Data

• gnomAD v4: 8-60836003-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60836004_60836005dup , CM000670.2:g.60836004_60836005dup	GRCh38
NC_000008.10:g.61748563_61748564dup , CM000670.1:g.61748563_61748564dup	GRCh37
NC_000008.9:g.61911117_61911118dup	NCBI36
NG_007009.1:g.162225_162226dup , LRG_176:g.162225_162226dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.3779-69_3779-68dup	ENSP00000512218.1:n.3779-69_3779-68dup
ENST00000423902.7:c.3779-69_3779-68dup MANE Select	ENSP00000392028.1:n.3779-69_3779-68dup
ENST00000423902.6:c.3779-69_3779-68dup	ENSP00000392028.1:n.3779-69_3779-68dup
ENST00000524602.5:c.1717-26225_1717-26224dup	ENSP00000437061.1:n.1717-26225_1717-26224...
NM_001316690.1:c.1717-26225_1717-26224dup	NP_001303619.1:n.1717-26225_1717-26224dup...
NM_017780.3:c.3779-69_3779-68dup	NP_060250.2:n.3779-69_3779-68dup
XM_011517553.1:c.3779-69_3779-68dup	XP_011515855.1:n.3779-69_3779-68dup
XM_011517554.1:c.3779-69_3779-68dup	XP_011515856.1:n.3779-69_3779-68dup
XM_011517555.1:c.3779-69_3779-68dup	XP_011515857.1:n.3779-69_3779-68dup
XM_011517556.1:c.3779-69_3779-68dup	XP_011515858.1:n.3779-69_3779-68dup
XM_011517557.1:c.1766-69_1766-68dup	XP_011515859.1:n.1766-69_1766-68dup
XM_011517558.1:c.1316-69_1316-68dup	XP_011515860.1:n.1316-69_1316-68dup
XM_011517559.1:c.524-69_524-68dup	XP_011515861.1:n.524-69_524-68dup
XM_011517560.1:c.3779-69_3779-68dup	XP_011515862.1:n.3779-69_3779-68dup
XM_011517553.2:c.3779-69_3779-68dup	XP_011515855.1:n.3779-69_3779-68dup
XM_011517554.3:c.3779-69_3779-68dup	XP_011515856.1:n.3779-69_3779-68dup
XM_011517555.2:c.3779-69_3779-68dup	XP_011515857.1:n.3779-69_3779-68dup
XM_011517560.2:c.3779-69_3779-68dup	XP_011515862.1:n.3779-69_3779-68dup
XM_017013612.1:c.3779-69_3779-68dup	XP_016869101.1:n.3779-69_3779-68dup
XM_017013613.1:c.3779-69_3779-68dup	XP_016869102.1:n.3779-69_3779-68dup
NM_017780.4:c.3779-69_3779-68dup MANE Select	NP_060250.2:n.3779-69_3779-68dup