Canonical Allele Identifier: CA1114433941

Gene: CHD7

Linked Data

• gnomAD v3: 8-60852695-AGCC-A
• gnomAD v4: 8-60852695-AGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852696_60852698del , CM000670.2:g.60852696_60852698del	GRCh38
NC_000008.10:g.61765255_61765257del , CM000670.1:g.61765255_61765257del	GRCh37
NC_000008.9:g.61927809_61927811del	NCBI36
NG_007009.1:g.178917_178919del , LRG_176:g.178917_178919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6093_6095del	ENSP00000512218.1:p.Pro2032del
ENST00000423902.7:c.6093_6095del MANE Select	ENSP00000392028.1:p.Pro2032del
ENST00000423902.6:c.6093_6095del	ENSP00000392028.1:p.Pro2032del
ENST00000524602.5:c.1717-9533_1717-9531del	ENSP00000437061.1:n.1717-9533_1717-9531del
NM_001316690.1:c.1717-9533_1717-9531del	NP_001303619.1:n.1717-9533_1717-9531del
NM_017780.3:c.6093_6095del	NP_060250.2:p.Pro2032del
XM_011517553.1:c.6183_6185del	XP_011515855.1:p.Pro2062del
XM_011517554.1:c.6183_6185del	XP_011515856.1:p.Pro2062del
XM_011517555.1:c.6183_6185del	XP_011515857.1:p.Pro2062del
XM_011517556.1:c.6183_6185del	XP_011515858.1:p.Pro2062del
XM_011517557.1:c.4170_4172del	XP_011515859.1:p.Pro1391del
XM_011517558.1:c.3720_3722del	XP_011515860.1:p.Pro1241del
XM_011517559.1:c.2928_2930del	XP_011515861.1:p.Pro977del
XM_011517553.2:c.6183_6185del	XP_011515855.1:p.Pro2062del
XM_011517554.3:c.6183_6185del	XP_011515856.1:p.Pro2062del
XM_011517555.2:c.6183_6185del	XP_011515857.1:p.Pro2062del
XM_017013612.1:c.6183_6185del	XP_016869101.1:p.Pro2062del
XM_017013613.1:c.6093_6095del	XP_016869102.1:p.Pro2032del
NM_017780.4:c.6093_6095del MANE Select	NP_060250.2:p.Pro2032del