Canonical Allele Identifier: CA2687399534

Gene: CHD7

Linked Data

• gnomAD v4: 8-60841836-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60841836_60841837insAA , CM000670.2:g.60841836_60841837insAA	GRCh38
NC_000008.10:g.61754395_61754396insAA , CM000670.1:g.61754395_61754396insAA	GRCh37
NC_000008.9:g.61916949_61916950insAA	NCBI36
NG_007009.1:g.168057_168058insAA , LRG_176:g.168057_168058insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4645-11_4645-10insAA	ENSP00000512218.1:n.4645-11_4645-10insAA
ENST00000423902.7:c.4645-11_4645-10insAA MANE Select	ENSP00000392028.1:n.4645-11_4645-10insAA
ENST00000423902.6:c.4645-11_4645-10insAA	ENSP00000392028.1:n.4645-11_4645-10insAA
ENST00000524602.5:c.1717-20393_1717-20392insAA	ENSP00000437061.1:n.1717-20393_1717-20392insAA
NM_001316690.1:c.1717-20393_1717-20392insAA	NP_001303619.1:n.1717-20393_1717-20392insAA
NM_017780.3:c.4645-11_4645-10insAA	NP_060250.2:n.4645-11_4645-10insAA
XM_011517553.1:c.4645-11_4645-10insAA	XP_011515855.1:n.4645-11_4645-10insAA
XM_011517554.1:c.4645-11_4645-10insAA	XP_011515856.1:n.4645-11_4645-10insAA
XM_011517555.1:c.4645-11_4645-10insAA	XP_011515857.1:n.4645-11_4645-10insAA
XM_011517556.1:c.4645-11_4645-10insAA	XP_011515858.1:n.4645-11_4645-10insAA
XM_011517557.1:c.2632-11_2632-10insAA	XP_011515859.1:n.2632-11_2632-10insAA
XM_011517558.1:c.2182-11_2182-10insAA	XP_011515860.1:n.2182-11_2182-10insAA
XM_011517559.1:c.1390-11_1390-10insAA	XP_011515861.1:n.1390-11_1390-10insAA
XM_011517560.1:c.4645-11_4645-10insAA	XP_011515862.1:n.4645-11_4645-10insAA
XM_011517553.2:c.4645-11_4645-10insAA	XP_011515855.1:n.4645-11_4645-10insAA
XM_011517554.3:c.4645-11_4645-10insAA	XP_011515856.1:n.4645-11_4645-10insAA
XM_011517555.2:c.4645-11_4645-10insAA	XP_011515857.1:n.4645-11_4645-10insAA
XM_011517560.2:c.4645-11_4645-10insAA	XP_011515862.1:n.4645-11_4645-10insAA
XM_017013612.1:c.4645-11_4645-10insAA	XP_016869101.1:n.4645-11_4645-10insAA
XM_017013613.1:c.4645-11_4645-10insAA	XP_016869102.1:n.4645-11_4645-10insAA
NM_017780.4:c.4645-11_4645-10insAA MANE Select	NP_060250.2:n.4645-11_4645-10insAA