Canonical Allele Identifier: CA16612457
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 411191
ClinVar RCV Id: RCV000457698
dbSNP Id: rs1060503189
MyVariant Identifiers: chr8:g.61729061del (hg19) chr8:g.60816502del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60816502del , CM000670.2:g.60816502del GRCh38
NC_000008.10:g.61729061del , CM000670.1:g.61729061del GRCh37
NC_000008.9:g.61891615del NCBI36
NG_007009.1:g.142723del , LRG_176:g.142723del

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.2613+1del
ENST00000423902.7:c.2613+1del
ENST00000423902.6:c.2613+1del
ENST00000524602.5:c.1716+35452del ENSP00000437061.1:n.1716+35452del
ENST00000525508.1:c.2613+1del
NM_001316690.1:c.1716+35452del NP_001303619.1:n.1716+35452del
NM_017780.3:c.2613+1del
XM_011517553.1:c.2613+1del
XM_011517554.1:c.2613+1del
XM_011517555.1:c.2613+1del
XM_011517556.1:c.2613+1del
XM_011517557.1:c.600+1del
XM_011517558.1:c.150+1del
XM_011517560.1:c.2613+1del
XM_011517553.2:c.2613+1del
XM_011517554.3:c.2613+1del
XM_011517555.2:c.2613+1del
XM_011517560.2:c.2613+1del
XM_017013612.1:c.2613+1del
XM_017013613.1:c.2613+1del
NM_017780.4:c.2613+1del
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