Canonical Allele Identifier: CA918272825

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60830218_60830221del , CM000670.2:g.60830218_60830221del	GRCh38
NC_000008.10:g.61742777_61742780del , CM000670.1:g.61742777_61742780del	GRCh37
NC_000008.9:g.61905331_61905334del	NCBI36
NG_007009.1:g.156439_156442del , LRG_176:g.156439_156442del

Transcript Alleles

HGVS	Amino-acid Change
NM_017780.4:c.3523-104_3523-101del MANE Select	NP_060250.2:n.3523-104_3523-101del
ENST00000423902.7:c.3523-104_3523-101del MANE Select	ENSP00000392028.1:n.3523-104_3523-101del
NM_001316690.1:c.1717-32011_1717-32008del	NP_001303619.1:n.1717-32011_1717-32008del
NM_017780.3:c.3523-104_3523-101del	NP_060250.2:n.3523-104_3523-101del
ENST00000423902.6:c.3523-104_3523-101del	ENSP00000392028.1:n.3523-104_3523-101del
ENST00000524602.5:c.1717-32011_1717-32008del	ENSP00000437061.1:n.1717-32011_1717-32008del
ENST00000695853.1:c.3523-104_3523-101del	ENSP00000512218.1:n.3523-104_3523-101del
XM_011517553.1:c.3523-104_3523-101del	XP_011515855.1:n.3523-104_3523-101del
XM_011517553.2:c.3523-104_3523-101del	XP_011515855.1:n.3523-104_3523-101del
XM_011517554.1:c.3523-104_3523-101del	XP_011515856.1:n.3523-104_3523-101del
XM_011517554.3:c.3523-104_3523-101del	XP_011515856.1:n.3523-104_3523-101del
XM_011517555.1:c.3523-104_3523-101del	XP_011515857.1:n.3523-104_3523-101del
XM_011517555.2:c.3523-104_3523-101del	XP_011515857.1:n.3523-104_3523-101del
XM_011517556.1:c.3523-104_3523-101del	XP_011515858.1:n.3523-104_3523-101del
XM_011517557.1:c.1510-104_1510-101del	XP_011515859.1:n.1510-104_1510-101del
XM_011517558.1:c.1060-104_1060-101del	XP_011515860.1:n.1060-104_1060-101del
XM_011517559.1:c.268-104_268-101del	XP_011515861.1:n.268-104_268-101del
XM_011517560.1:c.3523-104_3523-101del	XP_011515862.1:n.3523-104_3523-101del
XM_011517560.2:c.3523-104_3523-101del	XP_011515862.1:n.3523-104_3523-101del
XM_017013612.1:c.3523-104_3523-101del	XP_016869101.1:n.3523-104_3523-101del
XM_017013613.1:c.3523-104_3523-101del	XP_016869102.1:n.3523-104_3523-101del