Canonical Allele Identifier: CA1717985640

Gene: HIP1

Linked Data

• dbSNP Id: rs1796078023
• gnomAD v4: 7-75582137-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582140del , CM000669.2:g.75582140del	GRCh38
NC_000007.13:g.75211456del , CM000669.1:g.75211456del	GRCh37
NC_000007.12:g.75049392del	NCBI36
NG_023251.2:g.161824del
NG_023251.3:g.161824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.479del MANE Select	ENSP00000336747.6:p.Pro160GlnfsTer6
ENST00000336926.10:c.479del	ENSP00000336747.6:p.Pro160GlnfsTer6
ENST00000420909.1:c.392del	ENSP00000414280.1:p.Pro131GlnfsTer6
ENST00000434438.6:c.479del	ENSP00000410300.2:p.Pro160GlnfsTer6
ENST00000616821.4:c.392del	ENSP00000484528.1:p.Pro131GlnfsTer6
NM_001243198.2:c.479del	NP_001230127.1:p.Pro160GlnfsTer6
NM_005338.6:c.479del	NP_005329.3:p.Pro160GlnfsTer6
XM_005250304.2:c.392del	XP_005250361.1:p.Pro131GlnfsTer6
XM_005250305.2:c.377del	XP_005250362.1:p.Pro126GlnfsTer6
XM_011516116.1:c.479del	XP_011514418.1:p.Pro160GlnfsTer6
XM_011516116.2:c.479del	XP_011514418.1:p.Pro160GlnfsTer6
XM_017012099.1:c.437del	XP_016867588.1:p.Pro146GlnfsTer6
NM_005338.7:c.479del MANE Select	NP_005329.3:p.Pro160GlnfsTer6
NM_001243198.3:c.479del	NP_001230127.1:p.Pro160GlnfsTer6
NM_001382444.1:c.377del	NP_001369373.1:p.Pro126GlnfsTer6
NM_001382445.1:c.392del	NP_001369374.1:p.Pro131GlnfsTer6