Canonical Allele Identifier: CA7721046

Gene: HAPLN3

Linked Data

• dbSNP Id: rs748285251
• ExAC: 15:89424591 GCAGCTC / G
• gnomAD v2: 15-89424591-GCAGCTC-G
• gnomAD v3: 15-88881360-GCAGCTC-G
• gnomAD v4: 15-88881360-GCAGCTC-G
• MyVariant Identifiers: chr15:g.89424592_89424597del (hg19) ; chr15:g.88881361_88881366del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881369_88881374del , CM000677.2:g.88881369_88881374del	GRCh38
NC_000015.9:g.89424600_89424605del , CM000677.1:g.89424600_89424605del	GRCh37
NC_000015.8:g.87225604_87225609del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.484_489del MANE Select	ENSP00000352606.4:p.Glu162_Leu163del
ENST00000359595.7:c.484_489del	ENSP00000352606.3:p.Glu162_Leu163del
ENST00000558770.5:c.484_489del	ENSP00000456458.1:p.Glu162_Leu163del
ENST00000562281.1:c.484_489del	ENSP00000456985.1:p.Glu162_Leu163del
ENST00000562889.5:c.670_675del	ENSP00000457180.1:p.Glu224_Leu225del
ENST00000563808.1:n.586_591del
NM_001307952.1:c.670_675del	NP_001294881.1:p.Glu224_Leu225del
NM_178232.2:c.484_489del	NP_839946.1:p.Glu162_Leu163del
NM_178232.3:c.484_489del	NP_839946.1:p.Glu162_Leu163del
XM_011521261.1:c.616_621del	XP_011519563.1:p.Glu206_Leu207del
XR_243204.1:n.699_704del
XR_931756.1:n.805_810del
XM_017021934.2:c.670_675del	XP_016877423.1:p.Glu224_Leu225del
XM_017021935.2:c.105_110del	XP_016877424.1:p.Trp35_Ser36del
XM_017021936.2:c.105_110del	XP_016877425.1:p.Trp35_Ser36del
XR_001751098.2:n.817_822del
XR_931756.3:n.818_823del
NM_001307952.2:c.670_675del	NP_001294881.1:p.Glu224_Leu225del
NM_178232.4:c.484_489del MANE Select	NP_839946.1:p.Glu162_Leu163del