Canonical Allele Identifier: CA2194345596

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881201_88881202delinsCT , CM000677.2:g.88881201_88881202delinsCT	GRCh38
NC_000015.9:g.89424432_89424433delinsCT , CM000677.1:g.89424432_89424433delinsCT	GRCh37
NC_000015.8:g.87225436_87225437delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+155_493+156delinsAG MANE Select	ENSP00000352606.4:n.493+155_493+156delinsAG
ENST00000359595.7:c.493+155_493+156delinsAG	ENSP00000352606.3:n.493+155_493+156delinsAG
ENST00000558770.5:c.493+155_493+156delinsAG	ENSP00000456458.1:n.493+155_493+156delinsAG
ENST00000562281.1:c.493+155_493+156delinsAG	ENSP00000456985.1:n.493+155_493+156delinsAG
ENST00000562889.5:c.679+155_679+156delinsAG	ENSP00000457180.1:n.679+155_679+156delinsAG
ENST00000563808.1:n.750_751delinsAG
NM_001307952.1:c.679+155_679+156delinsAG	NP_001294881.1:n.679+155_679+156delinsAG
NM_178232.2:c.493+155_493+156delinsAG	NP_839946.1:n.493+155_493+156delinsAG
NM_178232.3:c.493+155_493+156delinsAG	NP_839946.1:n.493+155_493+156delinsAG
XM_011521261.1:c.625+155_625+156delinsAG	XP_011519563.1:n.625+155_625+156delinsAG
XR_243204.1:n.708+155_708+156delinsAG
XR_931756.1:n.814+155_814+156delinsAG
XM_017021934.2:c.679+155_679+156delinsAG	XP_016877423.1:n.679+155_679+156delinsAG
XM_017021935.2:c.114+155_114+156delinsAG	XP_016877424.1:n.114+155_114+156delinsAG
XM_017021936.2:c.114+155_114+156delinsAG	XP_016877425.1:n.114+155_114+156delinsAG
XR_001751098.2:n.826+155_826+156delinsAG
XR_931756.3:n.827+155_827+156delinsAG
NM_001307952.2:c.679+155_679+156delinsAG	NP_001294881.1:n.679+155_679+156delinsAG
NM_178232.4:c.493+155_493+156delinsAG MANE Select	NP_839946.1:n.493+155_493+156delinsAG