Canonical Allele Identifier: CA2630224390

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881710-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881711del , CM000677.2:g.88881711del	GRCh38
NC_000015.9:g.89424942del , CM000677.1:g.89424942del	GRCh37
NC_000015.8:g.87225946del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.139del MANE Select	ENSP00000352606.4:p.Val47Ter
ENST00000359595.7:c.139del	ENSP00000352606.3:p.Val47Ter
ENST00000558770.5:c.139del	ENSP00000456458.1:p.Val47Ter
ENST00000562281.1:c.139del	ENSP00000456985.1:p.Val47Ter
ENST00000562889.5:c.325del	ENSP00000457180.1:p.Val109Ter
ENST00000563808.1:n.241del
NM_001307952.1:c.325del	NP_001294881.1:p.Val109Ter
NM_178232.2:c.139del	NP_839946.1:p.Val47Ter
NM_178232.3:c.139del	NP_839946.1:p.Val47Ter
XM_011521261.1:c.271del	XP_011519563.1:p.Val91Ter
XR_243204.1:n.354del
XR_931756.1:n.460del
XM_017021934.2:c.325del	XP_016877423.1:p.Val109Ter
XM_017021935.2:c.-241del	XP_016877424.1:n.-241del
XM_017021936.2:c.-241del	XP_016877425.1:n.-241del
XR_001751098.2:n.472del
XR_931756.3:n.473del
NM_001307952.2:c.325del	NP_001294881.1:p.Val109Ter
NM_178232.4:c.139del MANE Select	NP_839946.1:p.Val47Ter