Canonical Allele Identifier: CA2160461635
Gene: PPP1R13B HGNC NCBI

Linked Data

dbSNP Id: rs2084602228

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103753625_103753629del , CM000676.2:g.103753625_103753629del GRCh38
NC_000014.8:g.104219962_104219966del , CM000676.1:g.104219962_104219966del GRCh37
NC_000014.7:g.103289715_103289719del NCBI36
NG_046915.1:g.100345_100349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000202556.14:c.632-427_632-423del MANE Select ENSP00000202556.9:n.632-427_632-423del
ENST00000647748.1:c.587-427_587-423del ENSP00000497343.1:n.587-427_587-423del
ENST00000202556.13:c.632-427_632-423del ENSP00000202556.9:n.632-427_632-423del
ENST00000556325.1:n.35-13560_35-13556del
ENST00000557082.5:c.*877-427_*877-423del ENSP00000451396.1:n.*877-427_*877-423del
NM_015316.2:c.632-427_632-423del NP_056131.2:n.632-427_632-423del
XM_005267487.3:c.836-427_836-423del XP_005267544.1:n.836-427_836-423del
XM_011536592.1:c.836-427_836-423del XP_011534894.1:n.836-427_836-423del
XM_011536593.1:c.836-427_836-423del XP_011534895.1:n.836-427_836-423del
XM_011536594.1:c.836-427_836-423del XP_011534896.1:n.836-427_836-423del
XM_011536595.1:c.632-427_632-423del XP_011534897.1:n.632-427_632-423del
XM_011536596.1:c.623-427_623-423del XP_011534898.1:n.623-427_623-423del
XM_011536597.1:c.623-427_623-423del XP_011534899.1:n.623-427_623-423del
XR_245676.2:n.1319-427_1319-423del
XR_943410.1:n.1319-427_1319-423del
XR_943411.1:n.1319-427_1319-423del
XR_943412.1:n.1319-427_1319-423del
XR_943413.1:n.1319-427_1319-423del
XM_005267487.5:c.836-427_836-423del XP_005267544.1:n.836-427_836-423del
XM_011536593.3:c.836-427_836-423del XP_011534895.1:n.836-427_836-423del
XM_017021116.1:c.632-427_632-423del XP_016876605.1:n.632-427_632-423del
XM_017021117.1:c.623-427_623-423del XP_016876606.1:n.623-427_623-423del
XR_001750204.2:n.1679-427_1679-423del
XR_001750205.2:n.1679-427_1679-423del
XR_001750206.2:n.1679-427_1679-423del
XR_245676.4:n.1679-427_1679-423del
XR_943413.3:n.1679-427_1679-423del
NM_015316.3:c.632-427_632-423del MANE Select NP_056131.2:n.632-427_632-423del