Canonical Allele Identifier: CA2687395191

Gene: CHD7

Linked Data

• gnomAD v4: 8-60741555-GCCAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60741556_60741560del , CM000670.2:g.60741556_60741560del	GRCh38
NC_000008.10:g.61654115_61654119del , CM000670.1:g.61654115_61654119del	GRCh37
NC_000008.9:g.61816669_61816673del	NCBI36
NG_007009.1:g.67777_67781del , LRG_176:g.67777_67781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.637_641del
ENST00000695849.1:n.637_641del
ENST00000695853.1:c.124_128del	ENSP00000512218.1:p.Pro42ArgfsTer17
ENST00000700671.1:c.124_128del	ENSP00000515139.1:p.Pro42ArgfsTer17
ENST00000423902.7:c.124_128del MANE Select	ENSP00000392028.1:p.Pro42ArgfsTer17
ENST00000423902.6:c.124_128del	ENSP00000392028.1:p.Pro42ArgfsTer17
ENST00000524602.5:c.124_128del	ENSP00000437061.1:p.Pro42ArgfsTer17
ENST00000525508.1:c.124_128del	ENSP00000436027.1:p.Pro42ArgfsTer17
NM_001316690.1:c.124_128del	NP_001303619.1:p.Pro42ArgfsTer17
NM_017780.3:c.124_128del	NP_060250.2:p.Pro42ArgfsTer17
XM_011517553.1:c.124_128del	XP_011515855.1:p.Pro42ArgfsTer17
XM_011517554.1:c.124_128del	XP_011515856.1:p.Pro42ArgfsTer17
XM_011517555.1:c.124_128del	XP_011515857.1:p.Pro42ArgfsTer17
XM_011517556.1:c.124_128del	XP_011515858.1:p.Pro42ArgfsTer17
XM_011517560.1:c.124_128del	XP_011515862.1:p.Pro42ArgfsTer17
XM_011517553.2:c.124_128del	XP_011515855.1:p.Pro42ArgfsTer17
XM_011517554.3:c.124_128del	XP_011515856.1:p.Pro42ArgfsTer17
XM_011517555.2:c.124_128del	XP_011515857.1:p.Pro42ArgfsTer17
XM_011517560.2:c.124_128del	XP_011515862.1:p.Pro42ArgfsTer17
XM_017013612.1:c.124_128del	XP_016869101.1:p.Pro42ArgfsTer17
XM_017013613.1:c.124_128del	XP_016869102.1:p.Pro42ArgfsTer17
NM_017780.4:c.124_128del MANE Select	NP_060250.2:p.Pro42ArgfsTer17