Canonical Allele Identifier: CA2687403946

Gene: CHD7

Linked Data

• gnomAD v4: 8-60852678-ATGTCGAATGCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852679_60852690del , CM000670.2:g.60852679_60852690del	GRCh38
NC_000008.10:g.61765238_61765249del , CM000670.1:g.61765238_61765249del	GRCh37
NC_000008.9:g.61927792_61927803del	NCBI36
NG_007009.1:g.178900_178911del , LRG_176:g.178900_178911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6076_6087del	ENSP00000512218.1:p.Cys2026_Pro2029del
ENST00000423902.7:c.6076_6087del MANE Select	ENSP00000392028.1:p.Cys2026_Pro2029del
ENST00000423902.6:c.6076_6087del	ENSP00000392028.1:p.Cys2026_Pro2029del
ENST00000524602.5:c.1717-9550_1717-9539del	ENSP00000437061.1:n.1717-9550_1717-9539del
NM_001316690.1:c.1717-9550_1717-9539del	NP_001303619.1:n.1717-9550_1717-9539del
NM_017780.3:c.6076_6087del	NP_060250.2:p.Cys2026_Pro2029del
XM_011517553.1:c.6166_6177del	XP_011515855.1:p.Cys2056_Pro2059del
XM_011517554.1:c.6166_6177del	XP_011515856.1:p.Cys2056_Pro2059del
XM_011517555.1:c.6166_6177del	XP_011515857.1:p.Cys2056_Pro2059del
XM_011517556.1:c.6166_6177del	XP_011515858.1:p.Cys2056_Pro2059del
XM_011517557.1:c.4153_4164del	XP_011515859.1:p.Cys1385_Pro1388del
XM_011517558.1:c.3703_3714del	XP_011515860.1:p.Cys1235_Pro1238del
XM_011517559.1:c.2911_2922del	XP_011515861.1:p.Cys971_Pro974del
XM_011517553.2:c.6166_6177del	XP_011515855.1:p.Cys2056_Pro2059del
XM_011517554.3:c.6166_6177del	XP_011515856.1:p.Cys2056_Pro2059del
XM_011517555.2:c.6166_6177del	XP_011515857.1:p.Cys2056_Pro2059del
XM_017013612.1:c.6166_6177del	XP_016869101.1:p.Cys2056_Pro2059del
XM_017013613.1:c.6076_6087del	XP_016869102.1:p.Cys2026_Pro2029del
NM_017780.4:c.6076_6087del MANE Select	NP_060250.2:p.Cys2026_Pro2029del