Canonical Allele Identifier: CA2687401579

Gene: CHD7

Linked Data

• gnomAD v4: 8-60845180-A-ACACTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60845180_60845181insCACTAT , CM000670.2:g.60845180_60845181insCACTAT	GRCh38
NC_000008.10:g.61757739_61757740insCACTAT , CM000670.1:g.61757739_61757740insCACTAT	GRCh37
NC_000008.9:g.61920293_61920294insCACTAT	NCBI36
NG_007009.1:g.171401_171402insCACTAT , LRG_176:g.171401_171402insCACTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5051-70_5051-69insCACTAT	ENSP00000512218.1:n.5051-70_5051-69insCACTAT
ENST00000423902.7:c.5051-70_5051-69insCACTAT MANE Select	ENSP00000392028.1:n.5051-70_5051-69insCACTAT
ENST00000423902.6:c.5051-70_5051-69insCACTAT	ENSP00000392028.1:n.5051-70_5051-69insCACTAT
ENST00000524602.5:c.1717-17049_1717-17048insCACTAT	ENSP00000437061.1:n.1717-17049_1717-17048insCACTAT
NM_001316690.1:c.1717-17049_1717-17048insCACTAT	NP_001303619.1:n.1717-17049_1717-17048insCACTAT
NM_017780.3:c.5051-70_5051-69insCACTAT	NP_060250.2:n.5051-70_5051-69insCACTAT
XM_011517553.1:c.5051-70_5051-69insCACTAT	XP_011515855.1:n.5051-70_5051-69insCACTAT
XM_011517554.1:c.5051-70_5051-69insCACTAT	XP_011515856.1:n.5051-70_5051-69insCACTAT
XM_011517555.1:c.5051-70_5051-69insCACTAT	XP_011515857.1:n.5051-70_5051-69insCACTAT
XM_011517556.1:c.5051-70_5051-69insCACTAT	XP_011515858.1:n.5051-70_5051-69insCACTAT
XM_011517557.1:c.3038-70_3038-69insCACTAT	XP_011515859.1:n.3038-70_3038-69insCACTAT
XM_011517558.1:c.2588-70_2588-69insCACTAT	XP_011515860.1:n.2588-70_2588-69insCACTAT
XM_011517559.1:c.1796-70_1796-69insCACTAT	XP_011515861.1:n.1796-70_1796-69insCACTAT
XM_011517553.2:c.5051-70_5051-69insCACTAT	XP_011515855.1:n.5051-70_5051-69insCACTAT
XM_011517554.3:c.5051-70_5051-69insCACTAT	XP_011515856.1:n.5051-70_5051-69insCACTAT
XM_011517555.2:c.5051-70_5051-69insCACTAT	XP_011515857.1:n.5051-70_5051-69insCACTAT
XM_017013612.1:c.5051-70_5051-69insCACTAT	XP_016869101.1:n.5051-70_5051-69insCACTAT
XM_017013613.1:c.5051-70_5051-69insCACTAT	XP_016869102.1:n.5051-70_5051-69insCACTAT
NM_017780.4:c.5051-70_5051-69insCACTAT MANE Select	NP_060250.2:n.5051-70_5051-69insCACTAT