Canonical Allele Identifier: CA2687403550

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865128-CGGCCGCCGCTGCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865133_60865147del , CM000670.2:g.60865133_60865147del	GRCh38
NC_000008.10:g.61777692_61777706del , CM000670.1:g.61777692_61777706del	GRCh37
NC_000008.9:g.61940246_61940260del	NCBI36
NG_007009.1:g.191354_191368del , LRG_176:g.191354_191368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1370_1384del
ENST00000695852.1:n.301_315del
ENST00000695853.1:c.*1253_*1267del	ENSP00000512218.1:n.*1253_*1267del
ENST00000423902.7:c.8194_8208del MANE Select	ENSP00000392028.1:p.Ala2732_Ala2736del
ENST00000423902.6:c.8194_8208del	ENSP00000392028.1:p.Ala2732_Ala2736del
ENST00000524602.5:c.2047_2061del	ENSP00000437061.1:p.Ala683_Ala687del
ENST00000528280.1:n.240_254del
NM_001316690.1:c.2047_2061del	NP_001303619.1:p.Ala683_Ala687del
NM_017780.3:c.8194_8208del	NP_060250.2:p.Ala2732_Ala2736del
XM_011517553.1:c.8284_8298del	XP_011515855.1:p.Ala2762_Ala2766del
XM_011517554.1:c.8284_8298del	XP_011515856.1:p.Ala2762_Ala2766del
XM_011517555.1:c.8281_8295del	XP_011515857.1:p.Ala2761_Ala2765del
XM_011517556.1:c.8062_8076del	XP_011515858.1:p.Ala2688_Ala2692del
XM_011517557.1:c.6271_6285del	XP_011515859.1:p.Ala2091_Ala2095del
XM_011517558.1:c.5821_5835del	XP_011515860.1:p.Ala1941_Ala1945del
XM_011517559.1:c.5029_5043del	XP_011515861.1:p.Ala1677_Ala1681del
XM_011517553.2:c.8284_8298del	XP_011515855.1:p.Ala2762_Ala2766del
XM_011517554.3:c.8284_8298del	XP_011515856.1:p.Ala2762_Ala2766del
XM_011517555.2:c.8281_8295del	XP_011515857.1:p.Ala2761_Ala2765del
XM_017013612.1:c.8284_8298del	XP_016869101.1:p.Ala2762_Ala2766del
XM_017013613.1:c.8191_8205del	XP_016869102.1:p.Ala2731_Ala2735del
NM_017780.4:c.8194_8208del MANE Select	NP_060250.2:p.Ala2732_Ala2736del