Canonical Allele Identifier: CA2194345586
Gene: HAPLN3 HGNC NCBI

Linked Data

dbSNP Id: rs1897685525

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881189_88881190del , CM000677.2:g.88881189_88881190del GRCh38
NC_000015.9:g.89424420_89424421del , CM000677.1:g.89424420_89424421del GRCh37
NC_000015.8:g.87225424_87225425del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.493+167_493+168del MANE Select ENSP00000352606.4:n.493+167_493+168del
ENST00000359595.7:c.493+167_493+168del ENSP00000352606.3:n.493+167_493+168del
ENST00000558770.5:c.493+167_493+168del ENSP00000456458.1:n.493+167_493+168del
ENST00000562281.1:c.493+167_493+168del ENSP00000456985.1:n.493+167_493+168del
ENST00000562889.5:c.679+167_679+168del ENSP00000457180.1:n.679+167_679+168del
ENST00000563808.1:n.762_763del
NM_001307952.1:c.679+167_679+168del NP_001294881.1:n.679+167_679+168del
NM_178232.2:c.493+167_493+168del NP_839946.1:n.493+167_493+168del
NM_178232.3:c.493+167_493+168del NP_839946.1:n.493+167_493+168del
XM_011521261.1:c.625+167_625+168del XP_011519563.1:n.625+167_625+168del
XR_243204.1:n.708+167_708+168del
XR_931756.1:n.814+167_814+168del
XM_017021934.2:c.679+167_679+168del XP_016877423.1:n.679+167_679+168del
XM_017021935.2:c.114+167_114+168del XP_016877424.1:n.114+167_114+168del
XM_017021936.2:c.114+167_114+168del XP_016877425.1:n.114+167_114+168del
XR_001751098.2:n.826+167_826+168del
XR_931756.3:n.827+167_827+168del
NM_001307952.2:c.679+167_679+168del NP_001294881.1:n.679+167_679+168del
NM_178232.4:c.493+167_493+168del MANE Select NP_839946.1:n.493+167_493+168del