Canonical Allele Identifier: CA582403414

Gene: CHD7

Linked Data

• ClinVar Variation Id: 569146
• ClinVar RCV Id: RCV000689706
• dbSNP Id: rs757119372
• gnomAD v2: 8-61693681-AAAG-A
• gnomAD v4: 8-60781122-AAAG-A
• MyVariant Identifiers: chr8:g.61693690_61693692del (hg19) ; chr8:g.61693685_61693687del (hg19) ; chr8:g.60781131_60781133del (hg38) ; chr8:g.60781126_60781128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781131_60781133del , CM000670.2:g.60781131_60781133del	GRCh38
NC_000008.10:g.61693690_61693692del , CM000670.1:g.61693690_61693692del	GRCh37
NC_000008.9:g.61856244_61856246del	NCBI36
NG_007009.1:g.107352_107354del , LRG_176:g.107352_107354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.2310_2312del
ENST00000695849.1:n.2310_2312del
ENST00000695853.1:c.1797_1799del	ENSP00000512218.1:p.Lys600del
ENST00000700671.1:c.1797_1799del	ENSP00000515139.1:p.Lys600del
ENST00000423902.7:c.1797_1799del MANE Select	ENSP00000392028.1:p.Lys600del
ENST00000423902.6:c.1797_1799del	ENSP00000392028.1:p.Lys600del
ENST00000524602.5:c.1716+81_1716+83del	ENSP00000437061.1:n.1716+81_1716+83del
ENST00000525508.1:c.1797_1799del	ENSP00000436027.1:p.Lys600del
ENST00000527900.1:c.117+81_117+83del	ENSP00000433336.1:n.117+81_117+83del
NM_001316690.1:c.1716+81_1716+83del	NP_001303619.1:n.1716+81_1716+83del
NM_017780.3:c.1797_1799del	NP_060250.2:p.Lys600del
XM_011517553.1:c.1797_1799del	XP_011515855.1:p.Lys600del
XM_011517554.1:c.1797_1799del	XP_011515856.1:p.Lys600del
XM_011517555.1:c.1797_1799del	XP_011515857.1:p.Lys600del
XM_011517556.1:c.1797_1799del	XP_011515858.1:p.Lys600del
XM_011517560.1:c.1797_1799del	XP_011515862.1:p.Lys600del
XM_011517553.2:c.1797_1799del	XP_011515855.1:p.Lys600del
XM_011517554.3:c.1797_1799del	XP_011515856.1:p.Lys600del
XM_011517555.2:c.1797_1799del	XP_011515857.1:p.Lys600del
XM_011517560.2:c.1797_1799del	XP_011515862.1:p.Lys600del
XM_017013612.1:c.1797_1799del	XP_016869101.1:p.Lys600del
XM_017013613.1:c.1797_1799del	XP_016869102.1:p.Lys600del
NM_017780.4:c.1797_1799del MANE Select	NP_060250.2:p.Lys600del