Canonical Allele Identifier: CA2528114737

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60841804_60841805insGGCTTG , CM000670.2:g.60841804_60841805insGGCTTG	GRCh38
NC_000008.10:g.61754363_61754364insGGCTTG , CM000670.1:g.61754363_61754364insGGCTTG	GRCh37
NC_000008.9:g.61916917_61916918insGGCTTG	NCBI36
NG_007009.1:g.168025_168026insGGCTTG , LRG_176:g.168025_168026insGGCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4645-43_4645-42insGGCTTG	ENSP00000512218.1:n.4645-43_4645-42insGGCTTG
ENST00000423902.7:c.4645-43_4645-42insGGCTTG MANE Select	ENSP00000392028.1:n.4645-43_4645-42insGGCTTG
ENST00000423902.6:c.4645-43_4645-42insGGCTTG	ENSP00000392028.1:n.4645-43_4645-42insGGCTTG
ENST00000524602.5:c.1717-20425_1717-20424insGGCTTG	ENSP00000437061.1:n.1717-20425_1717-20424insGGCTTG
NM_001316690.1:c.1717-20425_1717-20424insGGCTTG	NP_001303619.1:n.1717-20425_1717-20424insGGCTTG
NM_017780.3:c.4645-43_4645-42insGGCTTG	NP_060250.2:n.4645-43_4645-42insGGCTTG
XM_011517553.1:c.4645-43_4645-42insGGCTTG	XP_011515855.1:n.4645-43_4645-42insGGCTTG
XM_011517554.1:c.4645-43_4645-42insGGCTTG	XP_011515856.1:n.4645-43_4645-42insGGCTTG
XM_011517555.1:c.4645-43_4645-42insGGCTTG	XP_011515857.1:n.4645-43_4645-42insGGCTTG
XM_011517556.1:c.4645-43_4645-42insGGCTTG	XP_011515858.1:n.4645-43_4645-42insGGCTTG
XM_011517557.1:c.2632-43_2632-42insGGCTTG	XP_011515859.1:n.2632-43_2632-42insGGCTTG
XM_011517558.1:c.2182-43_2182-42insGGCTTG	XP_011515860.1:n.2182-43_2182-42insGGCTTG
XM_011517559.1:c.1390-43_1390-42insGGCTTG	XP_011515861.1:n.1390-43_1390-42insGGCTTG
XM_011517560.1:c.4645-43_4645-42insGGCTTG	XP_011515862.1:n.4645-43_4645-42insGGCTTG
XM_011517553.2:c.4645-43_4645-42insGGCTTG	XP_011515855.1:n.4645-43_4645-42insGGCTTG
XM_011517554.3:c.4645-43_4645-42insGGCTTG	XP_011515856.1:n.4645-43_4645-42insGGCTTG
XM_011517555.2:c.4645-43_4645-42insGGCTTG	XP_011515857.1:n.4645-43_4645-42insGGCTTG
XM_011517560.2:c.4645-43_4645-42insGGCTTG	XP_011515862.1:n.4645-43_4645-42insGGCTTG
XM_017013612.1:c.4645-43_4645-42insGGCTTG	XP_016869101.1:n.4645-43_4645-42insGGCTTG
XM_017013613.1:c.4645-43_4645-42insGGCTTG	XP_016869102.1:n.4645-43_4645-42insGGCTTG
NM_017780.4:c.4645-43_4645-42insGGCTTG MANE Select	NP_060250.2:n.4645-43_4645-42insGGCTTG