Canonical Allele Identifier: CA2579173743

Gene: CHD7

Linked Data

• gnomAD v4: 8-60849037-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60849041_60849043del , CM000670.2:g.60849041_60849043del	GRCh38
NC_000008.10:g.61761600_61761602del , CM000670.1:g.61761600_61761602del	GRCh37
NC_000008.9:g.61924154_61924156del	NCBI36
NG_007009.1:g.175262_175264del , LRG_176:g.175262_175264del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5301-10_5301-8del	ENSP00000512218.1:n.5301-10_5301-8del
ENST00000423902.7:c.5301-10_5301-8del MANE Select	ENSP00000392028.1:n.5301-10_5301-8del
ENST00000423902.6:c.5301-10_5301-8del	ENSP00000392028.1:n.5301-10_5301-8del
ENST00000524602.5:c.1717-13188_1717-13186del	ENSP00000437061.1:n.1717-13188_1717-13186...
NM_001316690.1:c.1717-13188_1717-13186del	NP_001303619.1:n.1717-13188_1717-13186del...
NM_017780.3:c.5301-10_5301-8del	NP_060250.2:n.5301-10_5301-8del
XM_011517553.1:c.5391-10_5391-8del	XP_011515855.1:n.5391-10_5391-8del
XM_011517554.1:c.5391-10_5391-8del	XP_011515856.1:n.5391-10_5391-8del
XM_011517555.1:c.5391-10_5391-8del	XP_011515857.1:n.5391-10_5391-8del
XM_011517556.1:c.5391-10_5391-8del	XP_011515858.1:n.5391-10_5391-8del
XM_011517557.1:c.3378-10_3378-8del	XP_011515859.1:n.3378-10_3378-8del
XM_011517558.1:c.2928-10_2928-8del	XP_011515860.1:n.2928-10_2928-8del
XM_011517559.1:c.2136-10_2136-8del	XP_011515861.1:n.2136-10_2136-8del
XM_011517553.2:c.5391-10_5391-8del	XP_011515855.1:n.5391-10_5391-8del
XM_011517554.3:c.5391-10_5391-8del	XP_011515856.1:n.5391-10_5391-8del
XM_011517555.2:c.5391-10_5391-8del	XP_011515857.1:n.5391-10_5391-8del
XM_017013612.1:c.5391-10_5391-8del	XP_016869101.1:n.5391-10_5391-8del
XM_017013613.1:c.5301-10_5301-8del	XP_016869102.1:n.5301-10_5301-8del
NM_017780.4:c.5301-10_5301-8del MANE Select	NP_060250.2:n.5301-10_5301-8del