Canonical Allele Identifier: CA2194345748

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881329_88881330delinsTG , CM000677.2:g.88881329_88881330delinsTG	GRCh38
NC_000015.9:g.89424560_89424561delinsTG , CM000677.1:g.89424560_89424561delinsTG	GRCh37
NC_000015.8:g.87225564_87225565delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+27_493+28delinsCA MANE Select	ENSP00000352606.4:n.493+27_493+28delinsCA
ENST00000359595.7:c.493+27_493+28delinsCA	ENSP00000352606.3:n.493+27_493+28delinsCA
ENST00000558770.5:c.493+27_493+28delinsCA	ENSP00000456458.1:n.493+27_493+28delinsCA
ENST00000562281.1:c.493+27_493+28delinsCA	ENSP00000456985.1:n.493+27_493+28delinsCA
ENST00000562889.5:c.679+27_679+28delinsCA	ENSP00000457180.1:n.679+27_679+28delinsCA
ENST00000563808.1:n.622_623delinsCA
NM_001307952.1:c.679+27_679+28delinsCA	NP_001294881.1:n.679+27_679+28delinsCA
NM_178232.2:c.493+27_493+28delinsCA	NP_839946.1:n.493+27_493+28delinsCA
NM_178232.3:c.493+27_493+28delinsCA	NP_839946.1:n.493+27_493+28delinsCA
XM_011521261.1:c.625+27_625+28delinsCA	XP_011519563.1:n.625+27_625+28delinsCA
XR_243204.1:n.708+27_708+28delinsCA
XR_931756.1:n.814+27_814+28delinsCA
XM_017021934.2:c.679+27_679+28delinsCA	XP_016877423.1:n.679+27_679+28delinsCA
XM_017021935.2:c.114+27_114+28delinsCA	XP_016877424.1:n.114+27_114+28delinsCA
XM_017021936.2:c.114+27_114+28delinsCA	XP_016877425.1:n.114+27_114+28delinsCA
XR_001751098.2:n.826+27_826+28delinsCA
XR_931756.3:n.827+27_827+28delinsCA
NM_001307952.2:c.679+27_679+28delinsCA	NP_001294881.1:n.679+27_679+28delinsCA
NM_178232.4:c.493+27_493+28delinsCA MANE Select	NP_839946.1:n.493+27_493+28delinsCA