Canonical Allele Identifier: CA2630223981

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881167-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881169del , CM000677.2:g.88881169del	GRCh38
NC_000015.9:g.89424400del , CM000677.1:g.89424400del	GRCh37
NC_000015.8:g.87225404del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+189del MANE Select	ENSP00000352606.4:n.493+189del
ENST00000359595.7:c.493+189del	ENSP00000352606.3:n.493+189del
ENST00000558770.5:c.493+189del	ENSP00000456458.1:n.493+189del
ENST00000562281.1:c.493+189del	ENSP00000456985.1:n.493+189del
ENST00000562889.5:c.679+189del	ENSP00000457180.1:n.679+189del
ENST00000563808.1:n.784del
NM_001307952.1:c.679+189del	NP_001294881.1:n.679+189del
NM_178232.2:c.493+189del	NP_839946.1:n.493+189del
NM_178232.3:c.493+189del	NP_839946.1:n.493+189del
XM_011521261.1:c.625+189del	XP_011519563.1:n.625+189del
XR_243204.1:n.708+189del
XR_931756.1:n.814+189del
XM_017021934.2:c.679+189del	XP_016877423.1:n.679+189del
XM_017021935.2:c.114+189del	XP_016877424.1:n.114+189del
XM_017021936.2:c.114+189del	XP_016877425.1:n.114+189del
XR_001751098.2:n.826+189del
XR_931756.3:n.827+189del
NM_001307952.2:c.679+189del	NP_001294881.1:n.679+189del
NM_178232.4:c.493+189del MANE Select	NP_839946.1:n.493+189del