Canonical Allele Identifier: CA842235994

Gene: HIP1

Linked Data

• dbSNP Id: rs1419481587
• gnomAD v3: 7-75581912-GCAC-G
• gnomAD v4: 7-75581912-GCAC-G
• MyVariant Identifiers: chr7:g.75581913_75581915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75581918_75581920del , CM000669.2:g.75581918_75581920del	GRCh38
NC_000007.13:g.75211234_75211236del , CM000669.1:g.75211234_75211236del	GRCh37
NC_000007.12:g.75049170_75049172del	NCBI36
NG_023251.2:g.162047_162049del
NG_023251.3:g.162047_162049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.542+160_542+162del MANE Select	ENSP00000336747.6:n.542+160_542+162del
ENST00000336926.10:c.542+160_542+162del	ENSP00000336747.6:n.542+160_542+162del
ENST00000434438.6:c.542+160_542+162del	ENSP00000410300.2:n.542+160_542+162del
ENST00000616821.4:c.455+160_455+162del	ENSP00000484528.1:n.455+160_455+162del
NM_001243198.2:c.542+160_542+162del	NP_001230127.1:n.542+160_542+162del
NM_005338.6:c.542+160_542+162del	NP_005329.3:n.542+160_542+162del
XM_005250304.2:c.455+160_455+162del	XP_005250361.1:n.455+160_455+162del
XM_005250305.2:c.440+160_440+162del	XP_005250362.1:n.440+160_440+162del
XM_011516116.1:c.542+160_542+162del	XP_011514418.1:n.542+160_542+162del
XM_011516116.2:c.542+160_542+162del	XP_011514418.1:n.542+160_542+162del
XM_017012099.1:c.500+160_500+162del	XP_016867588.1:n.500+160_500+162del
NM_005338.7:c.542+160_542+162del MANE Select	NP_005329.3:n.542+160_542+162del
NM_001243198.3:c.542+160_542+162del	NP_001230127.1:n.542+160_542+162del
NM_001382444.1:c.440+160_440+162del	NP_001369373.1:n.440+160_440+162del
NM_001382445.1:c.455+160_455+162del	NP_001369374.1:n.455+160_455+162del