Canonical Allele Identifier: CA2739268798

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2843615
• ClinVar RCV Id: RCV003604761

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60742981_60742985del , CM000670.2:g.60742981_60742985del	GRCh38
NC_000008.10:g.61655540_61655544del , CM000670.1:g.61655540_61655544del	GRCh37
NC_000008.9:g.61818094_61818098del	NCBI36
NG_007009.1:g.69202_69206del , LRG_176:g.69202_69206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2062_2066del
ENST00000695849.1:n.2062_2066del
ENST00000695853.1:c.1549_1553del	ENSP00000512218.1:p.Leu517AlafsTer?
ENST00000700671.1:c.1549_1553del	ENSP00000515139.1:p.Leu517AlafsTer?
ENST00000423902.7:c.1549_1553del MANE Select	ENSP00000392028.1:p.Leu517AlafsTer?
ENST00000423902.6:c.1549_1553del	ENSP00000392028.1:p.Leu517AlafsTer?
ENST00000524602.5:c.1549_1553del	ENSP00000437061.1:p.Leu517AlafsTer?
ENST00000525508.1:c.1549_1553del	ENSP00000436027.1:p.Leu517AlafsTer?
ENST00000527825.1:c.193_197del
NM_001316690.1:c.1549_1553del	NP_001303619.1:p.Leu517AlafsTer?
NM_017780.3:c.1549_1553del	NP_060250.2:p.Leu517AlafsTer?
XM_011517553.1:c.1549_1553del	XP_011515855.1:p.Leu517AlafsTer?
XM_011517554.1:c.1549_1553del	XP_011515856.1:p.Leu517AlafsTer?
XM_011517555.1:c.1549_1553del	XP_011515857.1:p.Leu517AlafsTer?
XM_011517556.1:c.1549_1553del	XP_011515858.1:p.Leu517AlafsTer?
XM_011517560.1:c.1549_1553del	XP_011515862.1:p.Leu517AlafsTer?
XM_011517553.2:c.1549_1553del	XP_011515855.1:p.Leu517AlafsTer?
XM_011517554.3:c.1549_1553del	XP_011515856.1:p.Leu517AlafsTer?
XM_011517555.2:c.1549_1553del	XP_011515857.1:p.Leu517AlafsTer?
XM_011517560.2:c.1549_1553del	XP_011515862.1:p.Leu517AlafsTer?
XM_017013612.1:c.1549_1553del	XP_016869101.1:p.Leu517AlafsTer?
XM_017013613.1:c.1549_1553del	XP_016869102.1:p.Leu517AlafsTer?
NM_017780.4:c.1549_1553del MANE Select	NP_060250.2:p.Leu517AlafsTer?