Canonical Allele Identifier: CA148847

Gene: CHD7

Linked Data

• ClinVar Variation Id: 95776
• ClinVar RCV Id: RCV002313798
• dbSNP Id: rs377139749
• ExAC: 8:61693942 G / GAAAGCA
• gnomAD v2: 8-61693942-G-GAAAGCA
• gnomAD v3: 8-60781383-G-GAAAGCA
• gnomAD v4: 8-60781383-G-GAAAGCA
• MyVariant Identifiers: chr8:g.61693946_61693951dup (hg19) ; chr8:g.61693946_61693951dupGCAAAA (hg19) ; chr8:g.61693951_61693952insGCAAAA (hg19) ; chr8:g.61693942_61693943insAAAGCA (hg19) ; chr8:g.60781387_60781392dupGCAAAA (hg38) ; chr8:g.60781383_60781384insAAAGCA (hg38)
• PubMed: PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781387_60781392dup , CM000670.2:g.60781387_60781392dup	GRCh38
NC_000008.10:g.61693946_61693951dup , CM000670.1:g.61693946_61693951dup	GRCh37
NC_000008.9:g.61856500_61856505dup	NCBI36
NG_007009.1:g.107608_107613dup , LRG_176:g.107608_107613dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.2566_2571dup
ENST00000695849.1:n.2566_2571dup
ENST00000695853.1:c.2053_2058dup	ENSP00000512218.1:p.Lys686_Thr687insAlaLys
ENST00000423902.7:c.2053_2058dup MANE Select	ENSP00000392028.1:p.Lys686_Thr687insAlaLys
ENST00000423902.6:c.2053_2058dup	ENSP00000392028.1:p.Lys686_Thr687insAlaLys
ENST00000524602.5:c.1716+337_1716+342dup	ENSP00000437061.1:n.1716+337_1716+342dup
ENST00000525508.1:c.2053_2058dup	ENSP00000436027.1:p.Lys686_Thr687insAlaLys
ENST00000527900.1:c.117+337_117+342dup	ENSP00000433336.1:n.117+337_117+342dup
NM_001316690.1:c.1716+337_1716+342dup	NP_001303619.1:n.1716+337_1716+342dup
NM_017780.3:c.2053_2058dup	NP_060250.2:p.Lys686_Thr687insAlaLys
XM_011517553.1:c.2053_2058dup	XP_011515855.1:p.Lys686_Thr687insAlaLys
XM_011517554.1:c.2053_2058dup	XP_011515856.1:p.Lys686_Thr687insAlaLys
XM_011517555.1:c.2053_2058dup	XP_011515857.1:p.Lys686_Thr687insAlaLys
XM_011517556.1:c.2053_2058dup	XP_011515858.1:p.Lys686_Thr687insAlaLys
XM_011517560.1:c.2053_2058dup	XP_011515862.1:p.Lys686_Thr687insAlaLys
XM_011517553.2:c.2053_2058dup	XP_011515855.1:p.Lys686_Thr687insAlaLys
XM_011517554.3:c.2053_2058dup	XP_011515856.1:p.Lys686_Thr687insAlaLys
XM_011517555.2:c.2053_2058dup	XP_011515857.1:p.Lys686_Thr687insAlaLys
XM_011517560.2:c.2053_2058dup	XP_011515862.1:p.Lys686_Thr687insAlaLys
XM_017013612.1:c.2053_2058dup	XP_016869101.1:p.Lys686_Thr687insAlaLys
XM_017013613.1:c.2053_2058dup	XP_016869102.1:p.Lys686_Thr687insAlaLys
NM_017780.4:c.2053_2058dup MANE Select	NP_060250.2:p.Lys686_Thr687insAlaLys