Canonical Allele Identifier: CA1114433841

Gene: CHD7

Linked Data

• gnomAD v3: 8-60852691-G-GTA
• gnomAD v4: 8-60852691-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852692_60852693insAT , CM000670.2:g.60852692_60852693insAT	GRCh38
NC_000008.10:g.61765251_61765252insAT , CM000670.1:g.61765251_61765252insAT	GRCh37
NC_000008.9:g.61927805_61927806insAT	NCBI36
NG_007009.1:g.178913_178914insAT , LRG_176:g.178913_178914insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6089_6090insAT	ENSP00000512218.1:p.Lys2031SerfsTer13
ENST00000423902.7:c.6089_6090insAT MANE Select	ENSP00000392028.1:p.Lys2031SerfsTer13
ENST00000423902.6:c.6089_6090insAT	ENSP00000392028.1:p.Lys2031SerfsTer13
ENST00000524602.5:c.1717-9537_1717-9536insAT	ENSP00000437061.1:n.1717-9537_1717-9536insAT
NM_001316690.1:c.1717-9537_1717-9536insAT	NP_001303619.1:n.1717-9537_1717-9536insAT
NM_017780.3:c.6089_6090insAT	NP_060250.2:p.Lys2031SerfsTer13
XM_011517553.1:c.6179_6180insAT	XP_011515855.1:p.Lys2061SerfsTer13
XM_011517554.1:c.6179_6180insAT	XP_011515856.1:p.Lys2061SerfsTer13
XM_011517555.1:c.6179_6180insAT	XP_011515857.1:p.Lys2061SerfsTer13
XM_011517556.1:c.6179_6180insAT	XP_011515858.1:p.Lys2061SerfsTer13
XM_011517557.1:c.4166_4167insAT	XP_011515859.1:p.Lys1390SerfsTer13
XM_011517558.1:c.3716_3717insAT	XP_011515860.1:p.Lys1240SerfsTer13
XM_011517559.1:c.2924_2925insAT	XP_011515861.1:p.Lys976SerfsTer13
XM_011517553.2:c.6179_6180insAT	XP_011515855.1:p.Lys2061SerfsTer13
XM_011517554.3:c.6179_6180insAT	XP_011515856.1:p.Lys2061SerfsTer13
XM_011517555.2:c.6179_6180insAT	XP_011515857.1:p.Lys2061SerfsTer13
XM_017013612.1:c.6179_6180insAT	XP_016869101.1:p.Lys2061SerfsTer13
XM_017013613.1:c.6089_6090insAT	XP_016869102.1:p.Lys2031SerfsTer13
NM_017780.4:c.6089_6090insAT MANE Select	NP_060250.2:p.Lys2031SerfsTer13