Canonical Allele Identifier: CA492288679

Gene: HAPLN3

Linked Data

• dbSNP Id: rs1318967719
• gnomAD v3: 15-88881770-CT-C
• gnomAD v4: 15-88881770-CT-C
• MyVariant Identifiers: chr15:g.89425002del (hg19) ; chr15:g.88881771del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881771del , CM000677.2:g.88881771del	GRCh38
NC_000015.9:g.89425002del , CM000677.1:g.89425002del	GRCh37
NC_000015.8:g.87226006del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.125-46del MANE Select	ENSP00000352606.4:n.125-46del
ENST00000359595.7:c.125-46del	ENSP00000352606.3:n.125-46del
ENST00000558770.5:c.125-46del	ENSP00000456458.1:n.125-46del
ENST00000562281.1:c.125-46del	ENSP00000456985.1:n.125-46del
ENST00000562889.5:c.311-46del	ENSP00000457180.1:n.311-46del
ENST00000563808.1:n.227-46del
NM_001307952.1:c.311-46del	NP_001294881.1:n.311-46del
NM_178232.2:c.125-46del	NP_839946.1:n.125-46del
NM_178232.3:c.125-46del	NP_839946.1:n.125-46del
XM_011521261.1:c.257-46del	XP_011519563.1:n.257-46del
XR_243204.1:n.340-46del
XR_931756.1:n.446-46del
XM_017021934.2:c.311-46del	XP_016877423.1:n.311-46del
XM_017021935.2:c.-255-46del	XP_016877424.1:n.-255-46del
XM_017021936.2:c.-255-46del	XP_016877425.1:n.-255-46del
XR_001751098.2:n.458-46del
XR_931756.3:n.459-46del
NM_001307952.2:c.311-46del	NP_001294881.1:n.311-46del
NM_178232.4:c.125-46del MANE Select	NP_839946.1:n.125-46del