Canonical Allele Identifier: CA2695209585

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60743096_60743097insAG , CM000670.2:g.60743096_60743097insAG	GRCh38
NC_000008.10:g.61655655_61655656insAG , CM000670.1:g.61655655_61655656insAG	GRCh37
NC_000008.9:g.61818209_61818210insAG	NCBI36
NG_007009.1:g.69317_69318insAG , LRG_176:g.69317_69318insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2177_2178insAG
ENST00000695849.1:n.2177_2178insAG
ENST00000695853.1:c.1664_1665insAG	ENSP00000512218.1:p.His556GlyfsTer9
ENST00000700671.1:c.1664_1665insAG	ENSP00000515139.1:p.His556GlyfsTer9
ENST00000423902.7:c.1664_1665insAG MANE Select	ENSP00000392028.1:p.His556GlyfsTer9
ENST00000423902.6:c.1664_1665insAG	ENSP00000392028.1:p.His556GlyfsTer9
ENST00000524602.5:c.1664_1665insAG	ENSP00000437061.1:p.His556GlyfsTer9
ENST00000525508.1:c.1664_1665insAG	ENSP00000436027.1:p.His556GlyfsTer9
ENST00000527825.1:c.308_309insAG
ENST00000527900.1:c.65_66insAG	ENSP00000433336.1:p.His23GlyfsTer9
NM_001316690.1:c.1664_1665insAG	NP_001303619.1:p.His556GlyfsTer9
NM_017780.3:c.1664_1665insAG	NP_060250.2:p.His556GlyfsTer9
XM_011517553.1:c.1664_1665insAG	XP_011515855.1:p.His556GlyfsTer9
XM_011517554.1:c.1664_1665insAG	XP_011515856.1:p.His556GlyfsTer9
XM_011517555.1:c.1664_1665insAG	XP_011515857.1:p.His556GlyfsTer9
XM_011517556.1:c.1664_1665insAG	XP_011515858.1:p.His556GlyfsTer9
XM_011517560.1:c.1664_1665insAG	XP_011515862.1:p.His556GlyfsTer9
XM_011517553.2:c.1664_1665insAG	XP_011515855.1:p.His556GlyfsTer9
XM_011517554.3:c.1664_1665insAG	XP_011515856.1:p.His556GlyfsTer9
XM_011517555.2:c.1664_1665insAG	XP_011515857.1:p.His556GlyfsTer9
XM_011517560.2:c.1664_1665insAG	XP_011515862.1:p.His556GlyfsTer9
XM_017013612.1:c.1664_1665insAG	XP_016869101.1:p.His556GlyfsTer9
XM_017013613.1:c.1664_1665insAG	XP_016869102.1:p.His556GlyfsTer9
NM_017780.4:c.1664_1665insAG MANE Select	NP_060250.2:p.His556GlyfsTer9