Canonical Allele Identifier: CA2695209740

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848554del , CM000670.2:g.60848554del	GRCh38
NC_000008.10:g.61761113del , CM000670.1:g.61761113del	GRCh37
NC_000008.9:g.61923667del	NCBI36
NG_007009.1:g.174775del , LRG_176:g.174775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5250del	ENSP00000512218.1:p.Glu1751LysfsTer2
ENST00000423902.7:c.5250del MANE Select	ENSP00000392028.1:p.Glu1751LysfsTer2
ENST00000423902.6:c.5250del	ENSP00000392028.1:p.Glu1751LysfsTer2
ENST00000524602.5:c.1717-13675del	ENSP00000437061.1:n.1717-13675del
NM_001316690.1:c.1717-13675del	NP_001303619.1:n.1717-13675del
NM_017780.3:c.5250del	NP_060250.2:p.Glu1751LysfsTer2
XM_011517553.1:c.5340del	XP_011515855.1:p.Glu1781LysfsTer2
XM_011517554.1:c.5340del	XP_011515856.1:p.Glu1781LysfsTer2
XM_011517555.1:c.5340del	XP_011515857.1:p.Glu1781LysfsTer2
XM_011517556.1:c.5340del	XP_011515858.1:p.Glu1781LysfsTer2
XM_011517557.1:c.3327del	XP_011515859.1:p.Glu1110LysfsTer2
XM_011517558.1:c.2877del	XP_011515860.1:p.Glu960LysfsTer2
XM_011517559.1:c.2085del	XP_011515861.1:p.Glu696LysfsTer2
XM_011517553.2:c.5340del	XP_011515855.1:p.Glu1781LysfsTer2
XM_011517554.3:c.5340del	XP_011515856.1:p.Glu1781LysfsTer2
XM_011517555.2:c.5340del	XP_011515857.1:p.Glu1781LysfsTer2
XM_017013612.1:c.5340del	XP_016869101.1:p.Glu1781LysfsTer2
XM_017013613.1:c.5250del	XP_016869102.1:p.Glu1751LysfsTer2
NM_017780.4:c.5250del MANE Select	NP_060250.2:p.Glu1751LysfsTer2