Canonical Allele Identifier: CA2580078849

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1710336
• ClinVar RCV Id: RCV002291343

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852648_60852649del , CM000670.2:g.60852648_60852649del	GRCh38
NC_000008.10:g.61765207_61765208del , CM000670.1:g.61765207_61765208del	GRCh37
NC_000008.9:g.61927761_61927762del	NCBI36
NG_007009.1:g.178869_178870del , LRG_176:g.178869_178870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6045_6046del	ENSP00000512218.1:p.Phe2015LeufsTer8
ENST00000423902.7:c.6045_6046del MANE Select	ENSP00000392028.1:p.Phe2015LeufsTer8
ENST00000423902.6:c.6045_6046del	ENSP00000392028.1:p.Phe2015LeufsTer8
ENST00000524602.5:c.1717-9581_1717-9580del	ENSP00000437061.1:n.1717-9581_1717-9580del
NM_001316690.1:c.1717-9581_1717-9580del	NP_001303619.1:n.1717-9581_1717-9580del
NM_017780.3:c.6045_6046del	NP_060250.2:p.Phe2015LeufsTer8
XM_011517553.1:c.6135_6136del	XP_011515855.1:p.Phe2045LeufsTer8
XM_011517554.1:c.6135_6136del	XP_011515856.1:p.Phe2045LeufsTer8
XM_011517555.1:c.6135_6136del	XP_011515857.1:p.Phe2045LeufsTer8
XM_011517556.1:c.6135_6136del	XP_011515858.1:p.Phe2045LeufsTer8
XM_011517557.1:c.4122_4123del	XP_011515859.1:p.Phe1374LeufsTer8
XM_011517558.1:c.3672_3673del	XP_011515860.1:p.Phe1224LeufsTer8
XM_011517559.1:c.2880_2881del	XP_011515861.1:p.Phe960LeufsTer8
XM_011517553.2:c.6135_6136del	XP_011515855.1:p.Phe2045LeufsTer8
XM_011517554.3:c.6135_6136del	XP_011515856.1:p.Phe2045LeufsTer8
XM_011517555.2:c.6135_6136del	XP_011515857.1:p.Phe2045LeufsTer8
XM_017013612.1:c.6135_6136del	XP_016869101.1:p.Phe2045LeufsTer8
XM_017013613.1:c.6045_6046del	XP_016869102.1:p.Phe2015LeufsTer8
NM_017780.4:c.6045_6046del MANE Select	NP_060250.2:p.Phe2015LeufsTer8