Canonical Allele Identifier: CA716882072

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1246476420
• gnomAD v3: 15-88881147-AGCTGTGTGACCTTAG-A
• gnomAD v4: 15-88881147-AGCTGTGTGACCTTAG-A
• MyVariant Identifiers: chr15:g.89424379_89424393del (hg19) ; chr15:g.88881148_88881162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881149_88881163del , CM000677.2:g.88881149_88881163del	GRCh38
NC_000015.9:g.89424380_89424394del , CM000677.1:g.89424380_89424394del	GRCh37
NC_000015.8:g.87225384_87225398del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.493+195_493+209del MANE Select	ENSP00000352606.4:n.493+195_493+209del
ENST00000359595.7:c.493+195_493+209del	ENSP00000352606.3:n.493+195_493+209del
ENST00000558770.5:c.493+195_493+209del	ENSP00000456458.1:n.493+195_493+209del
ENST00000562281.1:c.493+195_493+209del	ENSP00000456985.1:n.493+195_493+209del
ENST00000562889.5:c.679+195_679+209del	ENSP00000457180.1:n.679+195_679+209del
ENST00000563808.1:n.790_804del
NM_001307952.1:c.679+195_679+209del	NP_001294881.1:n.679+195_679+209del
NM_178232.2:c.493+195_493+209del	NP_839946.1:n.493+195_493+209del
NM_178232.3:c.493+195_493+209del	NP_839946.1:n.493+195_493+209del
XM_011521261.1:c.625+195_625+209del	XP_011519563.1:n.625+195_625+209del
XR_243204.1:n.708+195_708+209del
XR_931756.1:n.814+195_814+209del
XM_017021934.2:c.679+195_679+209del	XP_016877423.1:n.679+195_679+209del
XM_017021935.2:c.114+195_114+209del	XP_016877424.1:n.114+195_114+209del
XM_017021936.2:c.114+195_114+209del	XP_016877425.1:n.114+195_114+209del
XR_001751098.2:n.826+195_826+209del
XR_931756.3:n.827+195_827+209del
NM_001307952.2:c.679+195_679+209del	NP_001294881.1:n.679+195_679+209del
NM_178232.4:c.493+195_493+209del MANE Select	NP_839946.1:n.493+195_493+209del