Canonical Allele Identifier: CA788470201

Gene: HHIP

Linked Data

• dbSNP Id: rs1398084259
• gnomAD v3: 4-144728878-ATTG-A
• gnomAD v4: 4-144728878-ATTG-A
• MyVariant Identifiers: chr4:g.145650031_145650033del (hg19) ; chr4:g.144728879_144728881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728884_144728886del , CM000666.2:g.144728884_144728886del	GRCh38
NC_000004.11:g.145650036_145650038del , CM000666.1:g.145650036_145650038del	GRCh37
NC_000004.10:g.145869486_145869488del	NCBI36
NG_011496.1:g.87864_87866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296575.8:c.1761-5857_1761-5855del MANE Select	ENSP00000296575.3:n.1761-5857_1761-5855del
ENST00000649263.1:c.328-312903_328-312901del	ENSP00000497507.1:n.328-312903_328-312901del
ENST00000296575.7:c.1761-5857_1761-5855del	ENSP00000296575.3:n.1761-5857_1761-5855del
NM_022475.2:c.1761-5857_1761-5855del	NP_071920.1:n.1761-5857_1761-5855del
XM_005263178.3:c.1761-5857_1761-5855del	XP_005263235.1:n.1761-5857_1761-5855del
XM_006714288.2:c.1761-5857_1761-5855del	XP_006714351.1:n.1761-5857_1761-5855del
XM_005263178.5:c.1761-5857_1761-5855del	XP_005263235.1:n.1761-5857_1761-5855del
XM_006714288.4:c.1761-5857_1761-5855del	XP_006714351.1:n.1761-5857_1761-5855del
NM_022475.3:c.1761-5857_1761-5855del MANE Select	NP_071920.1:n.1761-5857_1761-5855del