Canonical Allele Identifier: CA1788133489

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848491_60848492delinsTC , CM000670.2:g.60848491_60848492delinsTC	GRCh38
NC_000008.10:g.61761050_61761051delinsTC , CM000670.1:g.61761050_61761051delinsTC	GRCh37
NC_000008.9:g.61923604_61923605delinsTC	NCBI36
NG_007009.1:g.174712_174713delinsTC , LRG_176:g.174712_174713delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5211-24_5211-23delinsTC	ENSP00000512218.1:n.5211-24_5211-23delinsTC
ENST00000423902.7:c.5211-24_5211-23delinsTC MANE Select	ENSP00000392028.1:n.5211-24_5211-23delinsTC
ENST00000423902.6:c.5211-24_5211-23delinsTC	ENSP00000392028.1:n.5211-24_5211-23delinsTC
ENST00000524602.5:c.1717-13738_1717-13737delinsTC	ENSP00000437061.1:n.1717-13738_1717-13737delinsTC
NM_001316690.1:c.1717-13738_1717-13737delinsTC	NP_001303619.1:n.1717-13738_1717-13737delinsTC
NM_017780.3:c.5211-24_5211-23delinsTC	NP_060250.2:n.5211-24_5211-23delinsTC
XM_011517553.1:c.5301-24_5301-23delinsTC	XP_011515855.1:n.5301-24_5301-23delinsTC
XM_011517554.1:c.5301-24_5301-23delinsTC	XP_011515856.1:n.5301-24_5301-23delinsTC
XM_011517555.1:c.5301-24_5301-23delinsTC	XP_011515857.1:n.5301-24_5301-23delinsTC
XM_011517556.1:c.5301-24_5301-23delinsTC	XP_011515858.1:n.5301-24_5301-23delinsTC
XM_011517557.1:c.3288-24_3288-23delinsTC	XP_011515859.1:n.3288-24_3288-23delinsTC
XM_011517558.1:c.2838-24_2838-23delinsTC	XP_011515860.1:n.2838-24_2838-23delinsTC
XM_011517559.1:c.2046-24_2046-23delinsTC	XP_011515861.1:n.2046-24_2046-23delinsTC
XM_011517553.2:c.5301-24_5301-23delinsTC	XP_011515855.1:n.5301-24_5301-23delinsTC
XM_011517554.3:c.5301-24_5301-23delinsTC	XP_011515856.1:n.5301-24_5301-23delinsTC
XM_011517555.2:c.5301-24_5301-23delinsTC	XP_011515857.1:n.5301-24_5301-23delinsTC
XM_017013612.1:c.5301-24_5301-23delinsTC	XP_016869101.1:n.5301-24_5301-23delinsTC
XM_017013613.1:c.5211-24_5211-23delinsTC	XP_016869102.1:n.5211-24_5211-23delinsTC
NM_017780.4:c.5211-24_5211-23delinsTC MANE Select	NP_060250.2:n.5211-24_5211-23delinsTC