Canonical Allele Identifier: CA10602498

Gene: CHD7

Linked Data

• ClinVar Variation Id: 267431
• ClinVar RCV Id: RCV000258110
• dbSNP Id: rs886040992
• MyVariant Identifiers: chr8:g.61754598_61754599del (hg19) ; chr8:g.60842039_60842040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60842039_60842040del , CM000670.2:g.60842039_60842040del	GRCh38
NC_000008.10:g.61754598_61754599del , CM000670.1:g.61754598_61754599del	GRCh37
NC_000008.9:g.61917152_61917153del	NCBI36
NG_007009.1:g.168260_168261del , LRG_176:g.168260_168261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4837_4838del	ENSP00000512218.1:p.Leu1613AlafsTer18
ENST00000423902.7:c.4837_4838del MANE Select	ENSP00000392028.1:p.Leu1613AlafsTer18
ENST00000423902.6:c.4837_4838del	ENSP00000392028.1:p.Leu1613AlafsTer18
ENST00000524602.5:c.1717-20190_1717-20189del	ENSP00000437061.1:n.1717-20190_1717-20189del
NM_001316690.1:c.1717-20190_1717-20189del	NP_001303619.1:n.1717-20190_1717-20189del
NM_017780.3:c.4837_4838del	NP_060250.2:p.Leu1613AlafsTer18
XM_011517553.1:c.4837_4838del	XP_011515855.1:p.Leu1613AlafsTer18
XM_011517554.1:c.4837_4838del	XP_011515856.1:p.Leu1613AlafsTer18
XM_011517555.1:c.4837_4838del	XP_011515857.1:p.Leu1613AlafsTer18
XM_011517556.1:c.4837_4838del	XP_011515858.1:p.Leu1613AlafsTer18
XM_011517557.1:c.2824_2825del	XP_011515859.1:p.Leu942AlafsTer18
XM_011517558.1:c.2374_2375del	XP_011515860.1:p.Leu792AlafsTer18
XM_011517559.1:c.1582_1583del	XP_011515861.1:p.Leu528AlafsTer18
XM_011517560.1:c.4837_4838del	XP_011515862.1:p.Leu1613AlafsTer24
XM_011517553.2:c.4837_4838del	XP_011515855.1:p.Leu1613AlafsTer18
XM_011517554.3:c.4837_4838del	XP_011515856.1:p.Leu1613AlafsTer18
XM_011517555.2:c.4837_4838del	XP_011515857.1:p.Leu1613AlafsTer18
XM_011517560.2:c.4837_4838del	XP_011515862.1:p.Leu1613AlafsTer24
XM_017013612.1:c.4837_4838del	XP_016869101.1:p.Leu1613AlafsTer18
XM_017013613.1:c.4837_4838del	XP_016869102.1:p.Leu1613AlafsTer18
NM_017780.4:c.4837_4838del MANE Select	NP_060250.2:p.Leu1613AlafsTer18