Canonical Allele Identifier: CA16618661
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 424351
ClinVar RCV Id: RCV000483407
dbSNP Id: rs1064796926
MyVariant Identifiers: chr8:g.61736423_61736424del (hg19) chr8:g.60823864_60823865del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60823864_60823865del , CM000670.2:g.60823864_60823865del GRCh38
NC_000008.10:g.61736423_61736424del , CM000670.1:g.61736423_61736424del GRCh37
NC_000008.9:g.61898977_61898978del NCBI36
NG_007009.1:g.150085_150086del , LRG_176:g.150085_150086del

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.3226_3227del ENSP00000512218.1:p.Lys1076ValfsTer9
ENST00000423902.7:c.3226_3227del MANE Select ENSP00000392028.1:p.Lys1076ValfsTer9
ENST00000423902.6:c.3226_3227del ENSP00000392028.1:p.Lys1076ValfsTer9
ENST00000524602.5:c.1717-38365_1717-38364del ENSP00000437061.1:n.1717-38365_1717-38364...
ENST00000525508.1:c.3226_3227del ENSP00000436027.1:p.Lys1076ValfsTer9
NM_001316690.1:c.1717-38365_1717-38364del NP_001303619.1:n.1717-38365_1717-38364del...
NM_017780.3:c.3226_3227del NP_060250.2:p.Lys1076ValfsTer9
XM_011517553.1:c.3226_3227del XP_011515855.1:p.Lys1076ValfsTer9
XM_011517554.1:c.3226_3227del XP_011515856.1:p.Lys1076ValfsTer9
XM_011517555.1:c.3226_3227del XP_011515857.1:p.Lys1076ValfsTer9
XM_011517556.1:c.3226_3227del XP_011515858.1:p.Lys1076ValfsTer9
XM_011517557.1:c.1213_1214del XP_011515859.1:p.Lys405ValfsTer9
XM_011517558.1:c.763_764del XP_011515860.1:p.Lys255ValfsTer9
XM_011517559.1:c.-30_-29del XP_011515861.1:n.-30_-29del
XM_011517560.1:c.3226_3227del XP_011515862.1:p.Lys1076ValfsTer9
XM_011517553.2:c.3226_3227del XP_011515855.1:p.Lys1076ValfsTer9
XM_011517554.3:c.3226_3227del XP_011515856.1:p.Lys1076ValfsTer9
XM_011517555.2:c.3226_3227del XP_011515857.1:p.Lys1076ValfsTer9
XM_011517560.2:c.3226_3227del XP_011515862.1:p.Lys1076ValfsTer9
XM_017013612.1:c.3226_3227del XP_016869101.1:p.Lys1076ValfsTer9
XM_017013613.1:c.3226_3227del XP_016869102.1:p.Lys1076ValfsTer9
NM_017780.4:c.3226_3227del MANE Select NP_060250.2:p.Lys1076ValfsTer9
Search 100 bp 5'
Search 100 bp 3'