Canonical Allele Identifier: CA645557424

Gene: CHD7

Linked Data

• COSMIC: COSM391948

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60822568_60822575del , CM000670.2:g.60822568_60822575del	GRCh38
NC_000008.10:g.61735127_61735134del , CM000670.1:g.61735127_61735134del	GRCh37
NC_000008.9:g.61897681_61897688del	NCBI36
NG_007009.1:g.148789_148796del , LRG_176:g.148789_148796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.3023_3030del	ENSP00000512218.1:p.Tyr1008LeufsTer?
ENST00000423902.7:c.3023_3030del MANE Select	ENSP00000392028.1:p.Tyr1008LeufsTer?
ENST00000423902.6:c.3023_3030del	ENSP00000392028.1:p.Tyr1008LeufsTer?
ENST00000524602.5:c.1717-39661_1717-39654del	ENSP00000437061.1:n.1717-39661_1717-39654del
ENST00000525508.1:c.3023_3030del	ENSP00000436027.1:p.Tyr1008LeufsTer?
NM_001316690.1:c.1717-39661_1717-39654del	NP_001303619.1:n.1717-39661_1717-39654del
NM_017780.3:c.3023_3030del	NP_060250.2:p.Tyr1008LeufsTer?
XM_011517553.1:c.3023_3030del	XP_011515855.1:p.Tyr1008LeufsTer?
XM_011517554.1:c.3023_3030del	XP_011515856.1:p.Tyr1008LeufsTer?
XM_011517555.1:c.3023_3030del	XP_011515857.1:p.Tyr1008LeufsTer?
XM_011517556.1:c.3023_3030del	XP_011515858.1:p.Tyr1008LeufsTer?
XM_011517557.1:c.1010_1017del	XP_011515859.1:p.Tyr337LeufsTer?
XM_011517558.1:c.560_567del	XP_011515860.1:p.Tyr187LeufsTer?
XM_011517560.1:c.3023_3030del	XP_011515862.1:p.Tyr1008LeufsTer?
XM_011517553.2:c.3023_3030del	XP_011515855.1:p.Tyr1008LeufsTer?
XM_011517554.3:c.3023_3030del	XP_011515856.1:p.Tyr1008LeufsTer?
XM_011517555.2:c.3023_3030del	XP_011515857.1:p.Tyr1008LeufsTer?
XM_011517560.2:c.3023_3030del	XP_011515862.1:p.Tyr1008LeufsTer?
XM_017013612.1:c.3023_3030del	XP_016869101.1:p.Tyr1008LeufsTer?
XM_017013613.1:c.3023_3030del	XP_016869102.1:p.Tyr1008LeufsTer?
NM_017780.4:c.3023_3030del MANE Select	NP_060250.2:p.Tyr1008LeufsTer?