Canonical Allele Identifier: CA2194346053

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881454_88881455delinsCT , CM000677.2:g.88881454_88881455delinsCT	GRCh38
NC_000015.9:g.89424685_89424686delinsCT , CM000677.1:g.89424685_89424686delinsCT	GRCh37
NC_000015.8:g.87225689_87225690delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.395_396delinsAG MANE Select	ENSP00000352606.4:p.Glu132=
ENST00000359595.7:c.395_396delinsAG	ENSP00000352606.3:p.Glu132=
ENST00000558770.5:c.395_396delinsAG	ENSP00000456458.1:p.Glu132=
ENST00000562281.1:c.395_396delinsAG	ENSP00000456985.1:p.Glu132=
ENST00000562889.5:c.581_582delinsAG	ENSP00000457180.1:p.Glu194=
ENST00000563808.1:n.497_498delinsAG
NM_001307952.1:c.581_582delinsAG	NP_001294881.1:p.Glu194=
NM_178232.2:c.395_396delinsAG	NP_839946.1:p.Glu132=
NM_178232.3:c.395_396delinsAG	NP_839946.1:p.Glu132=
XM_011521261.1:c.527_528delinsAG	XP_011519563.1:p.Glu176=
XR_243204.1:n.610_611delinsAG
XR_931756.1:n.716_717delinsAG
XM_017021934.2:c.581_582delinsAG	XP_016877423.1:p.Glu194=
XM_017021935.2:c.16_17delinsAG	XP_016877424.1:p.Arg6=
XM_017021936.2:c.16_17delinsAG	XP_016877425.1:p.Arg6=
XR_001751098.2:n.728_729delinsAG
XR_931756.3:n.729_730delinsAG
NM_001307952.2:c.581_582delinsAG	NP_001294881.1:p.Glu194=
NM_178232.4:c.395_396delinsAG MANE Select	NP_839946.1:p.Glu132=