Canonical Allele Identifier: CA716882094

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1426991953
• gnomAD v3: 15-88881201-CT-C
• gnomAD v4: 15-88881201-CT-C
• MyVariant Identifiers: chr15:g.89424433del (hg19) ; chr15:g.88881202del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881202del , CM000677.2:g.88881202del	GRCh38
NC_000015.9:g.89424433del , CM000677.1:g.89424433del	GRCh37
NC_000015.8:g.87225437del	NCBI36

Transcript Alleles

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