Canonical Allele Identifier: CA1788133430

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848475_60848476delinsGA , CM000670.2:g.60848475_60848476delinsGA	GRCh38
NC_000008.10:g.61761034_61761035delinsGA , CM000670.1:g.61761034_61761035delinsGA	GRCh37
NC_000008.9:g.61923588_61923589delinsGA	NCBI36
NG_007009.1:g.174696_174697delinsGA , LRG_176:g.174696_174697delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5211-40_5211-39delinsGA	ENSP00000512218.1:n.5211-40_5211-39delinsGA
ENST00000423902.7:c.5211-40_5211-39delinsGA MANE Select	ENSP00000392028.1:n.5211-40_5211-39delinsGA
ENST00000423902.6:c.5211-40_5211-39delinsGA	ENSP00000392028.1:n.5211-40_5211-39delinsGA
ENST00000524602.5:c.1717-13754_1717-13753delinsGA	ENSP00000437061.1:n.1717-13754_1717-13753delinsGA
NM_001316690.1:c.1717-13754_1717-13753delinsGA	NP_001303619.1:n.1717-13754_1717-13753delinsGA
NM_017780.3:c.5211-40_5211-39delinsGA	NP_060250.2:n.5211-40_5211-39delinsGA
XM_011517553.1:c.5301-40_5301-39delinsGA	XP_011515855.1:n.5301-40_5301-39delinsGA
XM_011517554.1:c.5301-40_5301-39delinsGA	XP_011515856.1:n.5301-40_5301-39delinsGA
XM_011517555.1:c.5301-40_5301-39delinsGA	XP_011515857.1:n.5301-40_5301-39delinsGA
XM_011517556.1:c.5301-40_5301-39delinsGA	XP_011515858.1:n.5301-40_5301-39delinsGA
XM_011517557.1:c.3288-40_3288-39delinsGA	XP_011515859.1:n.3288-40_3288-39delinsGA
XM_011517558.1:c.2838-40_2838-39delinsGA	XP_011515860.1:n.2838-40_2838-39delinsGA
XM_011517559.1:c.2046-40_2046-39delinsGA	XP_011515861.1:n.2046-40_2046-39delinsGA
XM_011517553.2:c.5301-40_5301-39delinsGA	XP_011515855.1:n.5301-40_5301-39delinsGA
XM_011517554.3:c.5301-40_5301-39delinsGA	XP_011515856.1:n.5301-40_5301-39delinsGA
XM_011517555.2:c.5301-40_5301-39delinsGA	XP_011515857.1:n.5301-40_5301-39delinsGA
XM_017013612.1:c.5301-40_5301-39delinsGA	XP_016869101.1:n.5301-40_5301-39delinsGA
XM_017013613.1:c.5211-40_5211-39delinsGA	XP_016869102.1:n.5211-40_5211-39delinsGA
NM_017780.4:c.5211-40_5211-39delinsGA MANE Select	NP_060250.2:n.5211-40_5211-39delinsGA