Canonical Allele Identifier: CA2194345584

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881188_88881190delinsTCA , CM000677.2:g.88881188_88881190delinsTCA	GRCh38
NC_000015.9:g.89424419_89424421delinsTCA , CM000677.1:g.89424419_89424421delinsTCA	GRCh37
NC_000015.8:g.87225423_87225425delinsTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+167_493+169delinsTGA MANE Select	ENSP00000352606.4:n.493+167_493+169delinsTGA
ENST00000359595.7:c.493+167_493+169delinsTGA	ENSP00000352606.3:n.493+167_493+169delinsTGA
ENST00000558770.5:c.493+167_493+169delinsTGA	ENSP00000456458.1:n.493+167_493+169delinsTGA
ENST00000562281.1:c.493+167_493+169delinsTGA	ENSP00000456985.1:n.493+167_493+169delinsTGA
ENST00000562889.5:c.679+167_679+169delinsTGA	ENSP00000457180.1:n.679+167_679+169delinsTGA
ENST00000563808.1:n.762_764delinsTGA
NM_001307952.1:c.679+167_679+169delinsTGA	NP_001294881.1:n.679+167_679+169delinsTGA
NM_178232.2:c.493+167_493+169delinsTGA	NP_839946.1:n.493+167_493+169delinsTGA
NM_178232.3:c.493+167_493+169delinsTGA	NP_839946.1:n.493+167_493+169delinsTGA
XM_011521261.1:c.625+167_625+169delinsTGA	XP_011519563.1:n.625+167_625+169delinsTGA
XR_243204.1:n.708+167_708+169delinsTGA
XR_931756.1:n.814+167_814+169delinsTGA
XM_017021934.2:c.679+167_679+169delinsTGA	XP_016877423.1:n.679+167_679+169delinsTGA
XM_017021935.2:c.114+167_114+169delinsTGA	XP_016877424.1:n.114+167_114+169delinsTGA
XM_017021936.2:c.114+167_114+169delinsTGA	XP_016877425.1:n.114+167_114+169delinsTGA
XR_001751098.2:n.826+167_826+169delinsTGA
XR_931756.3:n.827+167_827+169delinsTGA
NM_001307952.2:c.679+167_679+169delinsTGA	NP_001294881.1:n.679+167_679+169delinsTGA
NM_178232.4:c.493+167_493+169delinsTGA MANE Select	NP_839946.1:n.493+167_493+169delinsTGA