Canonical Allele Identifier: CA16618665
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 423133
ClinVar RCV Id: RCV000478057
dbSNP Id: rs1064796255
MyVariant Identifiers: chr8:g.61741366del (hg19) chr8:g.60828807del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60828807del , CM000670.2:g.60828807del GRCh38
NC_000008.10:g.61741366del , CM000670.1:g.61741366del GRCh37
NC_000008.9:g.61903920del NCBI36
NG_007009.1:g.155028del , LRG_176:g.155028del

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.3522+1del
ENST00000423902.7:c.3522+1del
ENST00000423902.6:c.3522+1del
ENST00000524602.5:c.1717-33422del ENSP00000437061.1:n.1717-33422del
NM_001316690.1:c.1717-33422del NP_001303619.1:n.1717-33422del
NM_017780.3:c.3522+1del
XM_011517553.1:c.3522+1del
XM_011517554.1:c.3522+1del
XM_011517555.1:c.3522+1del
XM_011517556.1:c.3522+1del
XM_011517557.1:c.1509+1del
XM_011517558.1:c.1059+1del
XM_011517559.1:c.267+1del
XM_011517560.1:c.3522+1del
XM_011517553.2:c.3522+1del
XM_011517554.3:c.3522+1del
XM_011517555.2:c.3522+1del
XM_011517560.2:c.3522+1del
XM_017013612.1:c.3522+1del
XM_017013613.1:c.3522+1del
NM_017780.4:c.3522+1del
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