Canonical Allele Identifier: CA2687399569

Gene: CHD7

Linked Data

• gnomAD v4: 8-60842134-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60842135del , CM000670.2:g.60842135del	GRCh38
NC_000008.10:g.61754694del , CM000670.1:g.61754694del	GRCh37
NC_000008.9:g.61917248del	NCBI36
NG_007009.1:g.168356del , LRG_176:g.168356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4850+83del	ENSP00000512218.1:n.4850+83del
ENST00000423902.7:c.4850+83del MANE Select	ENSP00000392028.1:n.4850+83del
ENST00000423902.6:c.4850+83del	ENSP00000392028.1:n.4850+83del
ENST00000524602.5:c.1717-20094del	ENSP00000437061.1:n.1717-20094del
NM_001316690.1:c.1717-20094del	NP_001303619.1:n.1717-20094del
NM_017780.3:c.4850+83del	NP_060250.2:n.4850+83del
XM_011517553.1:c.4850+83del	XP_011515855.1:n.4850+83del
XM_011517554.1:c.4850+83del	XP_011515856.1:n.4850+83del
XM_011517555.1:c.4850+83del	XP_011515857.1:n.4850+83del
XM_011517556.1:c.4850+83del	XP_011515858.1:n.4850+83del
XM_011517557.1:c.2837+83del	XP_011515859.1:n.2837+83del
XM_011517558.1:c.2387+83del	XP_011515860.1:n.2387+83del
XM_011517559.1:c.1595+83del	XP_011515861.1:n.1595+83del
XM_011517560.1:c.4850+83del	XP_011515862.1:n.4850+83del
XM_011517553.2:c.4850+83del	XP_011515855.1:n.4850+83del
XM_011517554.3:c.4850+83del	XP_011515856.1:n.4850+83del
XM_011517555.2:c.4850+83del	XP_011515857.1:n.4850+83del
XM_011517560.2:c.4850+83del	XP_011515862.1:n.4850+83del
XM_017013612.1:c.4850+83del	XP_016869101.1:n.4850+83del
XM_017013613.1:c.4850+83del	XP_016869102.1:n.4850+83del
NM_017780.4:c.4850+83del MANE Select	NP_060250.2:n.4850+83del