Canonical Allele Identifier: CA1500800317
Gene: HHIP HGNC NCBI

Linked Data

dbSNP Id: rs1730866861

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144728743_144728745del , CM000666.2:g.144728743_144728745del GRCh38
NC_000004.11:g.145649895_145649897del , CM000666.1:g.145649895_145649897del GRCh37
NC_000004.10:g.145869345_145869347del NCBI36
NG_011496.1:g.87723_87725del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296575.8:c.1761-5998_1761-5996del MANE Select ENSP00000296575.3:n.1761-5998_1761-5996del
ENST00000649263.1:c.328-312766_328-312764del ENSP00000497507.1:n.328-312766_328-312764del
ENST00000296575.7:c.1761-5998_1761-5996del ENSP00000296575.3:n.1761-5998_1761-5996del
NM_022475.2:c.1761-5998_1761-5996del NP_071920.1:n.1761-5998_1761-5996del
XM_005263178.3:c.1761-5998_1761-5996del XP_005263235.1:n.1761-5998_1761-5996del
XM_006714288.2:c.1761-5998_1761-5996del XP_006714351.1:n.1761-5998_1761-5996del
XM_005263178.5:c.1761-5998_1761-5996del XP_005263235.1:n.1761-5998_1761-5996del
XM_006714288.4:c.1761-5998_1761-5996del XP_006714351.1:n.1761-5998_1761-5996del
NM_022475.3:c.1761-5998_1761-5996del MANE Select NP_071920.1:n.1761-5998_1761-5996del