Canonical Allele Identifier: CA1069058526

Gene: HHIP

Linked Data

• dbSNP Id: rs1488289012
• gnomAD v3: 4-144728935-A-ATGTTTTGTATATAAGGAGTAG
• gnomAD v4: 4-144728935-A-ATGTTTTGTATATAAGGAGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728935_144728936insTGTTTTGTATATAAGGAGTAG , CM000666.2:g.144728935_144728936insTGTTTTGTATATAAGGAGTAG	GRCh38
NC_000004.11:g.145650087_145650088insTGTTTTGTATATAAGGAGTAG , CM000666.1:g.145650087_145650088insTGTTTTGTATATAAGGAGTAG	GRCh37
NC_000004.10:g.145869537_145869538insTGTTTTGTATATAAGGAGTAG	NCBI36
NG_011496.1:g.87915_87916insTGTTTTGTATATAAGGAGTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000296575.8:c.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG MANE Select	ENSP00000296575.3:n.1761-5806_1761-5805insTGTTTTGTATATAAGGAGT...
ENST00000649263.1:c.328-312958_328-312957insCTACTCCTTATATACAAAACA	ENSP00000497507.1:n.328-312958_328-312957insCTACTCCTTATATACAA...
ENST00000296575.7:c.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG	ENSP00000296575.3:n.1761-5806_1761-5805insTGTTTTGTATATAAGGAGT...
NM_022475.2:c.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG	NP_071920.1:n.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG
XM_005263178.3:c.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG	XP_005263235.1:n.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG
XM_006714288.2:c.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG	XP_006714351.1:n.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG
XM_005263178.5:c.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG	XP_005263235.1:n.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG
XM_006714288.4:c.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG	XP_006714351.1:n.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG
NM_022475.3:c.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG MANE Select	NP_071920.1:n.1761-5806_1761-5805insTGTTTTGTATATAAGGAGTAG