Canonical Allele Identifier: CA712814918
Gene: CHP1 HGNC NCBI

Linked Data

dbSNP Id: rs1320649628

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41271771del , CM000677.2:g.41271771del GRCh38
NC_000015.9:g.41563969del , CM000677.1:g.41563969del GRCh37
NC_000015.8:g.39351261del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334660.10:c.411+1153del MANE Select ENSP00000335632.5:n.411+1153del
ENST00000334660.9:c.411+1153del ENSP00000335632.5:n.411+1153del
ENST00000392151.6:c.350-6996del ENSP00000440490.1:n.350-6996del
ENST00000558351.5:n.543+1153del
ENST00000560397.5:c.411+1153del ENSP00000454007.1:n.411+1153del
ENST00000560411.5:c.*176+1153del ENSP00000453375.1:n.*176+1153del
ENST00000560633.1:n.399-409del
ENST00000560784.5:c.*110+1153del ENSP00000452772.1:n.*110+1153del
ENST00000560965.1:c.272-409del
NM_007236.4:c.411+1153del NP_009167.1:n.411+1153del
NM_007236.5:c.411+1153del MANE Select NP_009167.1:n.411+1153del