Canonical Allele Identifier: CA2519990392

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60841773_60841774insACGG , CM000670.2:g.60841773_60841774insACGG	GRCh38
NC_000008.10:g.61754332_61754333insACGG , CM000670.1:g.61754332_61754333insACGG	GRCh37
NC_000008.9:g.61916886_61916887insACGG	NCBI36
NG_007009.1:g.167994_167995insACGG , LRG_176:g.167994_167995insACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4644+19_4644+20insACGG	ENSP00000512218.1:n.4644+19_4644+20insACGG
ENST00000423902.7:c.4644+19_4644+20insACGG MANE Select	ENSP00000392028.1:n.4644+19_4644+20insACGG
ENST00000423902.6:c.4644+19_4644+20insACGG	ENSP00000392028.1:n.4644+19_4644+20insACGG
ENST00000524602.5:c.1717-20456_1717-20455insACGG	ENSP00000437061.1:n.1717-20456_1717-20455insACGG
NM_001316690.1:c.1717-20456_1717-20455insACGG	NP_001303619.1:n.1717-20456_1717-20455insACGG
NM_017780.3:c.4644+19_4644+20insACGG	NP_060250.2:n.4644+19_4644+20insACGG
XM_011517553.1:c.4644+19_4644+20insACGG	XP_011515855.1:n.4644+19_4644+20insACGG
XM_011517554.1:c.4644+19_4644+20insACGG	XP_011515856.1:n.4644+19_4644+20insACGG
XM_011517555.1:c.4644+19_4644+20insACGG	XP_011515857.1:n.4644+19_4644+20insACGG
XM_011517556.1:c.4644+19_4644+20insACGG	XP_011515858.1:n.4644+19_4644+20insACGG
XM_011517557.1:c.2631+19_2631+20insACGG	XP_011515859.1:n.2631+19_2631+20insACGG
XM_011517558.1:c.2181+19_2181+20insACGG	XP_011515860.1:n.2181+19_2181+20insACGG
XM_011517559.1:c.1389+19_1389+20insACGG	XP_011515861.1:n.1389+19_1389+20insACGG
XM_011517560.1:c.4644+19_4644+20insACGG	XP_011515862.1:n.4644+19_4644+20insACGG
XM_011517553.2:c.4644+19_4644+20insACGG	XP_011515855.1:n.4644+19_4644+20insACGG
XM_011517554.3:c.4644+19_4644+20insACGG	XP_011515856.1:n.4644+19_4644+20insACGG
XM_011517555.2:c.4644+19_4644+20insACGG	XP_011515857.1:n.4644+19_4644+20insACGG
XM_011517560.2:c.4644+19_4644+20insACGG	XP_011515862.1:n.4644+19_4644+20insACGG
XM_017013612.1:c.4644+19_4644+20insACGG	XP_016869101.1:n.4644+19_4644+20insACGG
XM_017013613.1:c.4644+19_4644+20insACGG	XP_016869102.1:n.4644+19_4644+20insACGG
NM_017780.4:c.4644+19_4644+20insACGG MANE Select	NP_060250.2:n.4644+19_4644+20insACGG