Canonical Allele Identifier: CA2830543231
Gene: HIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75561894_75561897del , CM000669.2:g.75561894_75561897del GRCh38
NC_000007.13:g.75191198_75191201del , CM000669.1:g.75191198_75191201del GRCh37
NC_000007.12:g.75029134_75029137del NCBI36
NG_023251.2:g.182068_182071del
NG_023251.3:g.182068_182071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336926.11:c.1118+179_1118+182del MANE Select ENSP00000336747.6:n.1118+179_1118+182del
ENST00000336926.10:c.1118+179_1118+182del ENSP00000336747.6:n.1118+179_1118+182del
ENST00000404944.3:n.437+179_437+182del
ENST00000434438.6:c.1118+179_1118+182del ENSP00000410300.2:n.1118+179_1118+182del
ENST00000616821.4:c.1031+179_1031+182del ENSP00000484528.1:n.1031+179_1031+182del
NM_001243198.2:c.1118+179_1118+182del NP_001230127.1:n.1118+179_1118+182del
NM_005338.6:c.1118+179_1118+182del NP_005329.3:n.1118+179_1118+182del
XM_005250304.2:c.1031+179_1031+182del XP_005250361.1:n.1031+179_1031+182del
XM_005250305.2:c.1016+179_1016+182del XP_005250362.1:n.1016+179_1016+182del
XM_011516116.1:c.1118+179_1118+182del XP_011514418.1:n.1118+179_1118+182del
XM_011516116.2:c.1118+179_1118+182del XP_011514418.1:n.1118+179_1118+182del
XM_017012099.1:c.1076+179_1076+182del XP_016867588.1:n.1076+179_1076+182del
NM_005338.7:c.1118+179_1118+182del MANE Select NP_005329.3:n.1118+179_1118+182del
NM_001243198.3:c.1118+179_1118+182del NP_001230127.1:n.1118+179_1118+182del
NM_001382444.1:c.1016+179_1016+182del NP_001369373.1:n.1016+179_1016+182del
NM_001382445.1:c.1031+179_1031+182del NP_001369374.1:n.1031+179_1031+182del