Canonical Allele Identifier: CA1069058513

Gene: HHIP

Linked Data

• dbSNP Id: rs1192116620
• gnomAD v3: 4-144728932-G-GGA
• gnomAD v4: 4-144728932-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728933_144728934insAG , CM000666.2:g.144728933_144728934insAG	GRCh38
NC_000004.11:g.145650085_145650086insAG , CM000666.1:g.145650085_145650086insAG	GRCh37
NC_000004.10:g.145869535_145869536insAG	NCBI36
NG_011496.1:g.87913_87914insAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000296575.8:c.1761-5808_1761-5807insAG MANE Select	ENSP00000296575.3:n.1761-5808_1761-5807insAG
ENST00000649263.1:c.328-312955_328-312954insTC	ENSP00000497507.1:n.328-312955_328-312954insTC
ENST00000296575.7:c.1761-5808_1761-5807insAG	ENSP00000296575.3:n.1761-5808_1761-5807insAG
NM_022475.2:c.1761-5808_1761-5807insAG	NP_071920.1:n.1761-5808_1761-5807insAG
XM_005263178.3:c.1761-5808_1761-5807insAG	XP_005263235.1:n.1761-5808_1761-5807insAG
XM_006714288.2:c.1761-5808_1761-5807insAG	XP_006714351.1:n.1761-5808_1761-5807insAG
XM_005263178.5:c.1761-5808_1761-5807insAG	XP_005263235.1:n.1761-5808_1761-5807insAG
XM_006714288.4:c.1761-5808_1761-5807insAG	XP_006714351.1:n.1761-5808_1761-5807insAG
NM_022475.3:c.1761-5808_1761-5807insAG MANE Select	NP_071920.1:n.1761-5808_1761-5807insAG