Canonical Allele Identifier: CA645546298

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1069145
• ClinVar RCV Id: RCV001380896
• dbSNP Id: rs2150811163
• COSMIC: COSM5696293

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853366_60853367del , CM000670.2:g.60853366_60853367del	GRCh38
NC_000008.10:g.61765925_61765926del , CM000670.1:g.61765925_61765926del	GRCh37
NC_000008.9:g.61928479_61928480del	NCBI36
NG_007009.1:g.179587_179588del , LRG_176:g.179587_179588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6641_6642del	ENSP00000512218.1:p.Val2214GlufsTer3
ENST00000423902.7:c.6641_6642del MANE Select	ENSP00000392028.1:p.Val2214GlufsTer3
ENST00000423902.6:c.6641_6642del	ENSP00000392028.1:p.Val2214GlufsTer3
ENST00000524602.5:c.1717-8863_1717-8862del	ENSP00000437061.1:n.1717-8863_1717-8862del
NM_001316690.1:c.1717-8863_1717-8862del	NP_001303619.1:n.1717-8863_1717-8862del
NM_017780.3:c.6641_6642del	NP_060250.2:p.Val2214GlufsTer3
XM_011517553.1:c.6731_6732del	XP_011515855.1:p.Val2244GlufsTer3
XM_011517554.1:c.6731_6732del	XP_011515856.1:p.Val2244GlufsTer3
XM_011517555.1:c.6731_6732del	XP_011515857.1:p.Val2244GlufsTer3
XM_011517556.1:c.6731_6732del	XP_011515858.1:p.Val2244GlufsTer3
XM_011517557.1:c.4718_4719del	XP_011515859.1:p.Val1573GlufsTer3
XM_011517558.1:c.4268_4269del	XP_011515860.1:p.Val1423GlufsTer3
XM_011517559.1:c.3476_3477del	XP_011515861.1:p.Val1159GlufsTer3
XM_011517553.2:c.6731_6732del	XP_011515855.1:p.Val2244GlufsTer3
XM_011517554.3:c.6731_6732del	XP_011515856.1:p.Val2244GlufsTer3
XM_011517555.2:c.6731_6732del	XP_011515857.1:p.Val2244GlufsTer3
XM_017013612.1:c.6731_6732del	XP_016869101.1:p.Val2244GlufsTer3
XM_017013613.1:c.6641_6642del	XP_016869102.1:p.Val2214GlufsTer3
NM_017780.4:c.6641_6642del MANE Select	NP_060250.2:p.Val2214GlufsTer3