Canonical Allele Identifier: CA915945696

Gene: CHD7

Linked Data

• ClinVar Variation Id: 648507
• ClinVar RCV Id: RCV000803257
• dbSNP Id: rs1586405367

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60830376_60830382del , CM000670.2:g.60830376_60830382del	GRCh38
NC_000008.10:g.61742935_61742941del , CM000670.1:g.61742935_61742941del	GRCh37
NC_000008.9:g.61905489_61905495del	NCBI36
NG_007009.1:g.156597_156603del , LRG_176:g.156597_156603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.3577_3583del	ENSP00000512218.1:p.Asp1193LysfsTer16
ENST00000423902.7:c.3577_3583del MANE Select	ENSP00000392028.1:p.Asp1193LysfsTer16
ENST00000423902.6:c.3577_3583del	ENSP00000392028.1:p.Asp1193LysfsTer16
ENST00000524602.5:c.1717-31853_1717-31847del	ENSP00000437061.1:n.1717-31853_1717-31847del
NM_001316690.1:c.1717-31853_1717-31847del	NP_001303619.1:n.1717-31853_1717-31847del
NM_017780.3:c.3577_3583del	NP_060250.2:p.Asp1193LysfsTer16
XM_011517553.1:c.3577_3583del	XP_011515855.1:p.Asp1193LysfsTer16
XM_011517554.1:c.3577_3583del	XP_011515856.1:p.Asp1193LysfsTer16
XM_011517555.1:c.3577_3583del	XP_011515857.1:p.Asp1193LysfsTer16
XM_011517556.1:c.3577_3583del	XP_011515858.1:p.Asp1193LysfsTer16
XM_011517557.1:c.1564_1570del	XP_011515859.1:p.Asp522LysfsTer16
XM_011517558.1:c.1114_1120del	XP_011515860.1:p.Asp372LysfsTer16
XM_011517559.1:c.322_328del	XP_011515861.1:p.Asp108LysfsTer16
XM_011517560.1:c.3577_3583del	XP_011515862.1:p.Asp1193LysfsTer16
XM_011517553.2:c.3577_3583del	XP_011515855.1:p.Asp1193LysfsTer16
XM_011517554.3:c.3577_3583del	XP_011515856.1:p.Asp1193LysfsTer16
XM_011517555.2:c.3577_3583del	XP_011515857.1:p.Asp1193LysfsTer16
XM_011517560.2:c.3577_3583del	XP_011515862.1:p.Asp1193LysfsTer16
XM_017013612.1:c.3577_3583del	XP_016869101.1:p.Asp1193LysfsTer16
XM_017013613.1:c.3577_3583del	XP_016869102.1:p.Asp1193LysfsTer16
NM_017780.4:c.3577_3583del MANE Select	NP_060250.2:p.Asp1193LysfsTer16