Canonical Allele Identifier: CA1114433805

Gene: CHD7

Linked Data

• gnomAD v3: 8-60852679-T-TCTCGGTG
• gnomAD v4: 8-60852679-T-TCTCGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852679_60852680insCTCGGTG , CM000670.2:g.60852679_60852680insCTCGGTG	GRCh38
NC_000008.10:g.61765238_61765239insCTCGGTG , CM000670.1:g.61765238_61765239insCTCGGTG	GRCh37
NC_000008.9:g.61927792_61927793insCTCGGTG	NCBI36
NG_007009.1:g.178900_178901insCTCGGTG , LRG_176:g.178900_178901insCTCGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6076_6077insCTCGGTG	ENSP00000512218.1:p.Cys2026SerfsTer11
ENST00000423902.7:c.6076_6077insCTCGGTG MANE Select	ENSP00000392028.1:p.Cys2026SerfsTer11
ENST00000423902.6:c.6076_6077insCTCGGTG	ENSP00000392028.1:p.Cys2026SerfsTer11
ENST00000524602.5:c.1717-9550_1717-9549insCTCGGTG	ENSP00000437061.1:n.1717-9550_1717-9549insCTCGGTG
NM_001316690.1:c.1717-9550_1717-9549insCTCGGTG	NP_001303619.1:n.1717-9550_1717-9549insCTCGGTG
NM_017780.3:c.6076_6077insCTCGGTG	NP_060250.2:p.Cys2026SerfsTer11
XM_011517553.1:c.6166_6167insCTCGGTG	XP_011515855.1:p.Cys2056SerfsTer11
XM_011517554.1:c.6166_6167insCTCGGTG	XP_011515856.1:p.Cys2056SerfsTer11
XM_011517555.1:c.6166_6167insCTCGGTG	XP_011515857.1:p.Cys2056SerfsTer11
XM_011517556.1:c.6166_6167insCTCGGTG	XP_011515858.1:p.Cys2056SerfsTer11
XM_011517557.1:c.4153_4154insCTCGGTG	XP_011515859.1:p.Cys1385SerfsTer11
XM_011517558.1:c.3703_3704insCTCGGTG	XP_011515860.1:p.Cys1235SerfsTer11
XM_011517559.1:c.2911_2912insCTCGGTG	XP_011515861.1:p.Cys971SerfsTer11
XM_011517553.2:c.6166_6167insCTCGGTG	XP_011515855.1:p.Cys2056SerfsTer11
XM_011517554.3:c.6166_6167insCTCGGTG	XP_011515856.1:p.Cys2056SerfsTer11
XM_011517555.2:c.6166_6167insCTCGGTG	XP_011515857.1:p.Cys2056SerfsTer11
XM_017013612.1:c.6166_6167insCTCGGTG	XP_016869101.1:p.Cys2056SerfsTer11
XM_017013613.1:c.6076_6077insCTCGGTG	XP_016869102.1:p.Cys2026SerfsTer11
NM_017780.4:c.6076_6077insCTCGGTG MANE Select	NP_060250.2:p.Cys2026SerfsTer11