Canonical Allele Identifier: CA107721046
Gene: HHIP HGNC NCBI

Linked Data

dbSNP Id: rs757432561
gnomAD v3: 4-144728808-GTTC-G
gnomAD v4: 4-144728808-GTTC-G
MyVariant Identifiers: chr4:g.145649961_145649963del (hg19) chr4:g.144728809_144728811del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144728813_144728815del , CM000666.2:g.144728813_144728815del GRCh38
NC_000004.11:g.145649965_145649967del , CM000666.1:g.145649965_145649967del GRCh37
NC_000004.10:g.145869415_145869417del NCBI36
NG_011496.1:g.87793_87795del

Transcript Alleles

HGVS Amino-acid change
ENST00000296575.8:c.1761-5928_1761-5926del MANE Select ENSP00000296575.3:n.1761-5928_1761-5926de...
ENST00000649263.1:c.328-312833_328-312831del ENSP00000497507.1:n.328-312833_328-312831...
ENST00000296575.7:c.1761-5928_1761-5926del ENSP00000296575.3:n.1761-5928_1761-5926de...
NM_022475.2:c.1761-5928_1761-5926del NP_071920.1:n.1761-5928_1761-5926del
XM_005263178.3:c.1761-5928_1761-5926del XP_005263235.1:n.1761-5928_1761-5926del
XM_006714288.2:c.1761-5928_1761-5926del XP_006714351.1:n.1761-5928_1761-5926del
XM_005263178.5:c.1761-5928_1761-5926del XP_005263235.1:n.1761-5928_1761-5926del
XM_006714288.4:c.1761-5928_1761-5926del XP_006714351.1:n.1761-5928_1761-5926del
NM_022475.3:c.1761-5928_1761-5926del MANE Select NP_071920.1:n.1761-5928_1761-5926del
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