Canonical Allele Identifier: CA2573143242

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1363858
• ClinVar RCV Id: RCV001937212
• dbSNP Id: rs2150669316

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781108_60781112del , CM000670.2:g.60781108_60781112del	GRCh38
NC_000008.10:g.61693667_61693671del , CM000670.1:g.61693667_61693671del	GRCh37
NC_000008.9:g.61856221_61856225del	NCBI36
NG_007009.1:g.107329_107333del , LRG_176:g.107329_107333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2287_2291del
ENST00000695849.1:n.2287_2291del
ENST00000695853.1:c.1774_1778del	ENSP00000512218.1:p.Gln592AlafsTer20
ENST00000700671.1:c.1774_1778del	ENSP00000515139.1:p.Gln592AlafsTer20
ENST00000423902.7:c.1774_1778del MANE Select	ENSP00000392028.1:p.Gln592AlafsTer20
ENST00000423902.6:c.1774_1778del	ENSP00000392028.1:p.Gln592AlafsTer20
ENST00000524602.5:c.1716+58_1716+62del	ENSP00000437061.1:n.1716+58_1716+62del
ENST00000525508.1:c.1774_1778del	ENSP00000436027.1:p.Gln592AlafsTer20
ENST00000527825.1:c.418_422del
ENST00000527900.1:c.117+58_117+62del	ENSP00000433336.1:n.117+58_117+62del
NM_001316690.1:c.1716+58_1716+62del	NP_001303619.1:n.1716+58_1716+62del
NM_017780.3:c.1774_1778del	NP_060250.2:p.Gln592AlafsTer20
XM_011517553.1:c.1774_1778del	XP_011515855.1:p.Gln592AlafsTer20
XM_011517554.1:c.1774_1778del	XP_011515856.1:p.Gln592AlafsTer20
XM_011517555.1:c.1774_1778del	XP_011515857.1:p.Gln592AlafsTer20
XM_011517556.1:c.1774_1778del	XP_011515858.1:p.Gln592AlafsTer20
XM_011517560.1:c.1774_1778del	XP_011515862.1:p.Gln592AlafsTer20
XM_011517553.2:c.1774_1778del	XP_011515855.1:p.Gln592AlafsTer20
XM_011517554.3:c.1774_1778del	XP_011515856.1:p.Gln592AlafsTer20
XM_011517555.2:c.1774_1778del	XP_011515857.1:p.Gln592AlafsTer20
XM_011517560.2:c.1774_1778del	XP_011515862.1:p.Gln592AlafsTer20
XM_017013612.1:c.1774_1778del	XP_016869101.1:p.Gln592AlafsTer20
XM_017013613.1:c.1774_1778del	XP_016869102.1:p.Gln592AlafsTer20
NM_017780.4:c.1774_1778del MANE Select	NP_060250.2:p.Gln592AlafsTer20