Canonical Allele Identifier: CA1788120872

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861037_60861040delinsTGGG , CM000670.2:g.60861037_60861040delinsTGGG	GRCh38
NC_000008.10:g.61773596_61773599delinsTGGG , CM000670.1:g.61773596_61773599delinsTGGG	GRCh37
NC_000008.9:g.61936150_61936153delinsTGGG	NCBI36
NG_007009.1:g.187258_187261delinsTGGG , LRG_176:g.187258_187261delinsTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.918_921delinsTGGG
ENST00000695851.1:n.122_125delinsTGGG
ENST00000695853.1:c.*801_*804delinsTGGG	ENSP00000512218.1:n.*801_*804delinsTGGG
ENST00000423902.7:c.7742_7745delinsTGGG MANE Select	ENSP00000392028.1:p.Val2581=
ENST00000423902.6:c.7742_7745delinsTGGG	ENSP00000392028.1:p.Val2581=
ENST00000524602.5:c.1717-1192_1717-1189delinsTGGG	ENSP00000437061.1:n.1717-1192_1717-1189delinsTGGG
ENST00000531695.1:n.166_169delinsTGGG
ENST00000618450.1:n.134_137delinsTGGG
NM_001316690.1:c.1717-1192_1717-1189delinsTGGG	NP_001303619.1:n.1717-1192_1717-1189delinsTGGG
NM_017780.3:c.7742_7745delinsTGGG	NP_060250.2:p.Val2581=
XM_011517553.1:c.7832_7835delinsTGGG	XP_011515855.1:p.Val2611=
XM_011517554.1:c.7832_7835delinsTGGG	XP_011515856.1:p.Val2611=
XM_011517555.1:c.7829_7832delinsTGGG	XP_011515857.1:p.Val2610=
XM_011517556.1:c.7699-1159_7699-1156delinsTGGG	XP_011515858.1:n.7699-1159_7699-1156delinsTGGG
XM_011517557.1:c.5819_5822delinsTGGG	XP_011515859.1:p.Val1940=
XM_011517558.1:c.5369_5372delinsTGGG	XP_011515860.1:p.Val1790=
XM_011517559.1:c.4577_4580delinsTGGG	XP_011515861.1:p.Val1526=
XM_011517553.2:c.7832_7835delinsTGGG	XP_011515855.1:p.Val2611=
XM_011517554.3:c.7832_7835delinsTGGG	XP_011515856.1:p.Val2611=
XM_011517555.2:c.7829_7832delinsTGGG	XP_011515857.1:p.Val2610=
XM_017013612.1:c.7832_7835delinsTGGG	XP_016869101.1:p.Val2611=
XM_017013613.1:c.7739_7742delinsTGGG	XP_016869102.1:p.Val2580=
NM_017780.4:c.7742_7745delinsTGGG MANE Select	NP_060250.2:p.Val2581=