Canonical Allele Identifier: CA1114429933

Gene: CHD7

Linked Data

• dbSNP Id: rs1805005798
• gnomAD v3: 8-60842169-AAATG-A
• gnomAD v4: 8-60842169-AAATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60842174_60842177del , CM000670.2:g.60842174_60842177del	GRCh38
NC_000008.10:g.61754733_61754736del , CM000670.1:g.61754733_61754736del	GRCh37
NC_000008.9:g.61917287_61917290del	NCBI36
NG_007009.1:g.168395_168398del , LRG_176:g.168395_168398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4850+122_4850+125del	ENSP00000512218.1:n.4850+122_4850+125del
ENST00000423902.7:c.4850+122_4850+125del MANE Select	ENSP00000392028.1:n.4850+122_4850+125del
ENST00000423902.6:c.4850+122_4850+125del	ENSP00000392028.1:n.4850+122_4850+125del
ENST00000524602.5:c.1717-20055_1717-20052del	ENSP00000437061.1:n.1717-20055_1717-20052del
NM_001316690.1:c.1717-20055_1717-20052del	NP_001303619.1:n.1717-20055_1717-20052del
NM_017780.3:c.4850+122_4850+125del	NP_060250.2:n.4850+122_4850+125del
XM_011517553.1:c.4850+122_4850+125del	XP_011515855.1:n.4850+122_4850+125del
XM_011517554.1:c.4850+122_4850+125del	XP_011515856.1:n.4850+122_4850+125del
XM_011517555.1:c.4850+122_4850+125del	XP_011515857.1:n.4850+122_4850+125del
XM_011517556.1:c.4850+122_4850+125del	XP_011515858.1:n.4850+122_4850+125del
XM_011517557.1:c.2837+122_2837+125del	XP_011515859.1:n.2837+122_2837+125del
XM_011517558.1:c.2387+122_2387+125del	XP_011515860.1:n.2387+122_2387+125del
XM_011517559.1:c.1595+122_1595+125del	XP_011515861.1:n.1595+122_1595+125del
XM_011517560.1:c.4850+122_4850+125del	XP_011515862.1:n.4850+122_4850+125del
XM_011517553.2:c.4850+122_4850+125del	XP_011515855.1:n.4850+122_4850+125del
XM_011517554.3:c.4850+122_4850+125del	XP_011515856.1:n.4850+122_4850+125del
XM_011517555.2:c.4850+122_4850+125del	XP_011515857.1:n.4850+122_4850+125del
XM_011517560.2:c.4850+122_4850+125del	XP_011515862.1:n.4850+122_4850+125del
XM_017013612.1:c.4850+122_4850+125del	XP_016869101.1:n.4850+122_4850+125del
XM_017013613.1:c.4850+122_4850+125del	XP_016869102.1:n.4850+122_4850+125del
NM_017780.4:c.4850+122_4850+125del MANE Select	NP_060250.2:n.4850+122_4850+125del