Canonical Allele Identifier: CA2803881401
Gene: CHP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41271783_41271786del , CM000677.2:g.41271783_41271786del GRCh38
NC_000015.9:g.41563981_41563984del , CM000677.1:g.41563981_41563984del GRCh37
NC_000015.8:g.39351273_39351276del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334660.10:c.411+1165_411+1168del MANE Select ENSP00000335632.5:n.411+1165_411+1168del
ENST00000334660.9:c.411+1165_411+1168del ENSP00000335632.5:n.411+1165_411+1168del
ENST00000392151.6:c.350-6984_350-6981del ENSP00000440490.1:n.350-6984_350-6981del
ENST00000558351.5:n.543+1165_543+1168del
ENST00000560397.5:c.411+1165_411+1168del ENSP00000454007.1:n.411+1165_411+1168del
ENST00000560411.5:c.*176+1165_*176+1168del ENSP00000453375.1:n.*176+1165_*176+1168del
ENST00000560633.1:n.399-397_399-394del
ENST00000560784.5:c.*110+1165_*110+1168del ENSP00000452772.1:n.*110+1165_*110+1168del
ENST00000560965.1:c.272-397_272-394del
NM_007236.4:c.411+1165_411+1168del NP_009167.1:n.411+1165_411+1168del
NM_007236.5:c.411+1165_411+1168del MANE Select NP_009167.1:n.411+1165_411+1168del