Canonical Allele Identifier: CA2687399296

Gene: CHD7

Linked Data

• gnomAD v4: 8-60838156-A-ACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60838156_60838157insCCC , CM000670.2:g.60838156_60838157insCCC	GRCh38
NC_000008.10:g.61750715_61750716insCCC , CM000670.1:g.61750715_61750716insCCC	GRCh37
NC_000008.9:g.61913269_61913270insCCC	NCBI36
NG_007009.1:g.164377_164378insCCC , LRG_176:g.164377_164378insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4434_4435insCCC	ENSP00000512218.1:p.Glu1478_Gly1479insPro
ENST00000423902.7:c.4434_4435insCCC MANE Select	ENSP00000392028.1:p.Glu1478_Gly1479insPro
ENST00000423902.6:c.4434_4435insCCC	ENSP00000392028.1:p.Glu1478_Gly1479insPro
ENST00000524602.5:c.1717-24073_1717-24072insCCC	ENSP00000437061.1:n.1717-24073_1717-24072insCCC
NM_001316690.1:c.1717-24073_1717-24072insCCC	NP_001303619.1:n.1717-24073_1717-24072insCCC
NM_017780.3:c.4434_4435insCCC	NP_060250.2:p.Glu1478_Gly1479insPro
XM_011517553.1:c.4434_4435insCCC	XP_011515855.1:p.Glu1478_Gly1479insPro
XM_011517554.1:c.4434_4435insCCC	XP_011515856.1:p.Glu1478_Gly1479insPro
XM_011517555.1:c.4434_4435insCCC	XP_011515857.1:p.Glu1478_Gly1479insPro
XM_011517556.1:c.4434_4435insCCC	XP_011515858.1:p.Glu1478_Gly1479insPro
XM_011517557.1:c.2421_2422insCCC	XP_011515859.1:p.Glu807_Gly808insPro
XM_011517558.1:c.1971_1972insCCC	XP_011515860.1:p.Glu657_Gly658insPro
XM_011517559.1:c.1179_1180insCCC	XP_011515861.1:p.Glu393_Gly394insPro
XM_011517560.1:c.4434_4435insCCC	XP_011515862.1:p.Glu1478_Gly1479insPro
XM_011517553.2:c.4434_4435insCCC	XP_011515855.1:p.Glu1478_Gly1479insPro
XM_011517554.3:c.4434_4435insCCC	XP_011515856.1:p.Glu1478_Gly1479insPro
XM_011517555.2:c.4434_4435insCCC	XP_011515857.1:p.Glu1478_Gly1479insPro
XM_011517560.2:c.4434_4435insCCC	XP_011515862.1:p.Glu1478_Gly1479insPro
XM_017013612.1:c.4434_4435insCCC	XP_016869101.1:p.Glu1478_Gly1479insPro
XM_017013613.1:c.4434_4435insCCC	XP_016869102.1:p.Glu1478_Gly1479insPro
NM_017780.4:c.4434_4435insCCC MANE Select	NP_060250.2:p.Glu1478_Gly1479insPro