Canonical Allele Identifier: CA107721249

Gene: HHIP

Linked Data

• dbSNP Id: rs577787060
• gnomAD v2: 4-145650135-GAAGA-G
• gnomAD v3: 4-144728983-GAAGA-G
• gnomAD v4: 4-144728983-GAAGA-G
• MyVariant Identifiers: chr4:g.145650136_145650139del (hg19) ; chr4:g.144728984_144728987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728990_144728993del , CM000666.2:g.144728990_144728993del	GRCh38
NC_000004.11:g.145650142_145650145del , CM000666.1:g.145650142_145650145del	GRCh37
NC_000004.10:g.145869592_145869595del	NCBI36
NG_011496.1:g.87970_87973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296575.8:c.1761-5751_1761-5748del MANE Select	ENSP00000296575.3:n.1761-5751_1761-5748del
ENST00000649263.1:c.328-313009_328-313006del	ENSP00000497507.1:n.328-313009_328-313006del
ENST00000296575.7:c.1761-5751_1761-5748del	ENSP00000296575.3:n.1761-5751_1761-5748del
NM_022475.2:c.1761-5751_1761-5748del	NP_071920.1:n.1761-5751_1761-5748del
XM_005263178.3:c.1761-5751_1761-5748del	XP_005263235.1:n.1761-5751_1761-5748del
XM_006714288.2:c.1761-5751_1761-5748del	XP_006714351.1:n.1761-5751_1761-5748del
XM_005263178.5:c.1761-5751_1761-5748del	XP_005263235.1:n.1761-5751_1761-5748del
XM_006714288.4:c.1761-5751_1761-5748del	XP_006714351.1:n.1761-5751_1761-5748del
NM_022475.3:c.1761-5751_1761-5748del MANE Select	NP_071920.1:n.1761-5751_1761-5748del