Canonical Allele Identifier: CA1788134049

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848720_60848723delinsTGCA , CM000670.2:g.60848720_60848723delinsTGCA	GRCh38
NC_000008.10:g.61761279_61761282delinsTGCA , CM000670.1:g.61761279_61761282delinsTGCA	GRCh37
NC_000008.9:g.61923833_61923836delinsTGCA	NCBI36
NG_007009.1:g.174941_174944delinsTGCA , LRG_176:g.174941_174944delinsTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5300+116_5300+119delinsTGCA	ENSP00000512218.1:n.5300+116_5300+119delinsTGCA
ENST00000423902.7:c.5300+116_5300+119delinsTGCA MANE Select	ENSP00000392028.1:n.5300+116_5300+119delinsTGCA
ENST00000423902.6:c.5300+116_5300+119delinsTGCA	ENSP00000392028.1:n.5300+116_5300+119delinsTGCA
ENST00000524602.5:c.1717-13509_1717-13506delinsTGCA	ENSP00000437061.1:n.1717-13509_1717-13506delinsTGCA
NM_001316690.1:c.1717-13509_1717-13506delinsTGCA	NP_001303619.1:n.1717-13509_1717-13506delinsTGCA
NM_017780.3:c.5300+116_5300+119delinsTGCA	NP_060250.2:n.5300+116_5300+119delinsTGCA
XM_011517553.1:c.5390+116_5390+119delinsTGCA	XP_011515855.1:n.5390+116_5390+119delinsTGCA
XM_011517554.1:c.5390+116_5390+119delinsTGCA	XP_011515856.1:n.5390+116_5390+119delinsTGCA
XM_011517555.1:c.5390+116_5390+119delinsTGCA	XP_011515857.1:n.5390+116_5390+119delinsTGCA
XM_011517556.1:c.5390+116_5390+119delinsTGCA	XP_011515858.1:n.5390+116_5390+119delinsTGCA
XM_011517557.1:c.3377+116_3377+119delinsTGCA	XP_011515859.1:n.3377+116_3377+119delinsTGCA
XM_011517558.1:c.2927+116_2927+119delinsTGCA	XP_011515860.1:n.2927+116_2927+119delinsTGCA
XM_011517559.1:c.2135+116_2135+119delinsTGCA	XP_011515861.1:n.2135+116_2135+119delinsTGCA
XM_011517553.2:c.5390+116_5390+119delinsTGCA	XP_011515855.1:n.5390+116_5390+119delinsTGCA
XM_011517554.3:c.5390+116_5390+119delinsTGCA	XP_011515856.1:n.5390+116_5390+119delinsTGCA
XM_011517555.2:c.5390+116_5390+119delinsTGCA	XP_011515857.1:n.5390+116_5390+119delinsTGCA
XM_017013612.1:c.5390+116_5390+119delinsTGCA	XP_016869101.1:n.5390+116_5390+119delinsTGCA
XM_017013613.1:c.5300+116_5300+119delinsTGCA	XP_016869102.1:n.5300+116_5300+119delinsTGCA
NM_017780.4:c.5300+116_5300+119delinsTGCA MANE Select	NP_060250.2:n.5300+116_5300+119delinsTGCA