Canonical Allele Identifier: CA2630224051

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881248-GAATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881251_88881254del , CM000677.2:g.88881251_88881254del	GRCh38
NC_000015.9:g.89424482_89424485del , CM000677.1:g.89424482_89424485del	GRCh37
NC_000015.8:g.87225486_87225489del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+105_493+108del MANE Select	ENSP00000352606.4:n.493+105_493+108del
ENST00000359595.7:c.493+105_493+108del	ENSP00000352606.3:n.493+105_493+108del
ENST00000558770.5:c.493+105_493+108del	ENSP00000456458.1:n.493+105_493+108del
ENST00000562281.1:c.493+105_493+108del	ENSP00000456985.1:n.493+105_493+108del
ENST00000562889.5:c.679+105_679+108del	ENSP00000457180.1:n.679+105_679+108del
ENST00000563808.1:n.700_703del
NM_001307952.1:c.679+105_679+108del	NP_001294881.1:n.679+105_679+108del
NM_178232.2:c.493+105_493+108del	NP_839946.1:n.493+105_493+108del
NM_178232.3:c.493+105_493+108del	NP_839946.1:n.493+105_493+108del
XM_011521261.1:c.625+105_625+108del	XP_011519563.1:n.625+105_625+108del
XR_243204.1:n.708+105_708+108del
XR_931756.1:n.814+105_814+108del
XM_017021934.2:c.679+105_679+108del	XP_016877423.1:n.679+105_679+108del
XM_017021935.2:c.114+105_114+108del	XP_016877424.1:n.114+105_114+108del
XM_017021936.2:c.114+105_114+108del	XP_016877425.1:n.114+105_114+108del
XR_001751098.2:n.826+105_826+108del
XR_931756.3:n.827+105_827+108del
NM_001307952.2:c.679+105_679+108del	NP_001294881.1:n.679+105_679+108del
NM_178232.4:c.493+105_493+108del MANE Select	NP_839946.1:n.493+105_493+108del