Canonical Allele Identifier: CA788470117

Gene: HHIP

Linked Data

• dbSNP Id: rs1280375442
• gnomAD v3: 4-144728761-TGA-T
• gnomAD v4: 4-144728761-TGA-T
• MyVariant Identifiers: chr4:g.145649914_145649915del (hg19) ; chr4:g.144728762_144728763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728764_144728765del , CM000666.2:g.144728764_144728765del	GRCh38
NC_000004.11:g.145649916_145649917del , CM000666.1:g.145649916_145649917del	GRCh37
NC_000004.10:g.145869366_145869367del	NCBI36
NG_011496.1:g.87744_87745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296575.8:c.1761-5977_1761-5976del MANE Select	ENSP00000296575.3:n.1761-5977_1761-5976del
ENST00000649263.1:c.328-312785_328-312784del	ENSP00000497507.1:n.328-312785_328-312784del
ENST00000296575.7:c.1761-5977_1761-5976del	ENSP00000296575.3:n.1761-5977_1761-5976del
NM_022475.2:c.1761-5977_1761-5976del	NP_071920.1:n.1761-5977_1761-5976del
XM_005263178.3:c.1761-5977_1761-5976del	XP_005263235.1:n.1761-5977_1761-5976del
XM_006714288.2:c.1761-5977_1761-5976del	XP_006714351.1:n.1761-5977_1761-5976del
XM_005263178.5:c.1761-5977_1761-5976del	XP_005263235.1:n.1761-5977_1761-5976del
XM_006714288.4:c.1761-5977_1761-5976del	XP_006714351.1:n.1761-5977_1761-5976del
NM_022475.3:c.1761-5977_1761-5976del MANE Select	NP_071920.1:n.1761-5977_1761-5976del