Canonical Allele Identifier: CA2739289507

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860964del , CM000670.2:g.60860964del	GRCh38
NC_000008.10:g.61773523del , CM000670.1:g.61773523del	GRCh37
NC_000008.9:g.61936077del	NCBI36
NG_007009.1:g.187185del , LRG_176:g.187185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.845del
ENST00000695851.1:n.49del
ENST00000695853.1:c.*728del	ENSP00000512218.1:n.*728del
ENST00000423902.7:c.7669del MANE Select	ENSP00000392028.1:p.Ile2557PhefsTer?
ENST00000423902.6:c.7669del	ENSP00000392028.1:p.Ile2557PhefsTer?
ENST00000524602.5:c.1717-1265del	ENSP00000437061.1:n.1717-1265del
ENST00000531695.1:n.93del
ENST00000618450.1:n.61del
NM_001316690.1:c.1717-1265del	NP_001303619.1:n.1717-1265del
NM_017780.3:c.7669del	NP_060250.2:p.Ile2557PhefsTer?
XM_011517553.1:c.7759del	XP_011515855.1:p.Ile2587PhefsTer?
XM_011517554.1:c.7759del	XP_011515856.1:p.Ile2587PhefsTer?
XM_011517555.1:c.7756del	XP_011515857.1:p.Ile2586PhefsTer?
XM_011517556.1:c.7699-1232del	XP_011515858.1:n.7699-1232del
XM_011517557.1:c.5746del	XP_011515859.1:p.Ile1916PhefsTer?
XM_011517558.1:c.5296del	XP_011515860.1:p.Ile1766PhefsTer?
XM_011517559.1:c.4504del	XP_011515861.1:p.Ile1502PhefsTer?
XM_011517553.2:c.7759del	XP_011515855.1:p.Ile2587PhefsTer?
XM_011517554.3:c.7759del	XP_011515856.1:p.Ile2587PhefsTer?
XM_011517555.2:c.7756del	XP_011515857.1:p.Ile2586PhefsTer?
XM_017013612.1:c.7759del	XP_016869101.1:p.Ile2587PhefsTer?
XM_017013613.1:c.7666del	XP_016869102.1:p.Ile2556PhefsTer?
NM_017780.4:c.7669del MANE Select	NP_060250.2:p.Ile2557PhefsTer?