Canonical Allele Identifier: CA2514022540

Gene: HAPLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881191_88881195del , CM000677.2:g.88881191_88881195del	GRCh38
NC_000015.9:g.89424422_89424426del , CM000677.1:g.89424422_89424426del	GRCh37
NC_000015.8:g.87225426_87225430del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+162_493+166del MANE Select	ENSP00000352606.4:n.493+162_493+166del
ENST00000359595.7:c.493+162_493+166del	ENSP00000352606.3:n.493+162_493+166del
ENST00000558770.5:c.493+162_493+166del	ENSP00000456458.1:n.493+162_493+166del
ENST00000562281.1:c.493+162_493+166del	ENSP00000456985.1:n.493+162_493+166del
ENST00000562889.5:c.679+162_679+166del	ENSP00000457180.1:n.679+162_679+166del
ENST00000563808.1:n.757_761del
NM_001307952.1:c.679+162_679+166del	NP_001294881.1:n.679+162_679+166del
NM_178232.2:c.493+162_493+166del	NP_839946.1:n.493+162_493+166del
NM_178232.3:c.493+162_493+166del	NP_839946.1:n.493+162_493+166del
XM_011521261.1:c.625+162_625+166del	XP_011519563.1:n.625+162_625+166del
XR_243204.1:n.708+162_708+166del
XR_931756.1:n.814+162_814+166del
XM_017021934.2:c.679+162_679+166del	XP_016877423.1:n.679+162_679+166del
XM_017021935.2:c.114+162_114+166del	XP_016877424.1:n.114+162_114+166del
XM_017021936.2:c.114+162_114+166del	XP_016877425.1:n.114+162_114+166del
XR_001751098.2:n.826+162_826+166del
XR_931756.3:n.827+162_827+166del
NM_001307952.2:c.679+162_679+166del	NP_001294881.1:n.679+162_679+166del
NM_178232.4:c.493+162_493+166del MANE Select	NP_839946.1:n.493+162_493+166del