Canonical Allele Identifier: CA2194346790
Gene: HAPLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881770_88881771delinsCT , CM000677.2:g.88881770_88881771delinsCT GRCh38
NC_000015.9:g.89425001_89425002delinsCT , CM000677.1:g.89425001_89425002delinsCT GRCh37
NC_000015.8:g.87226005_87226006delinsCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.125-46_125-45delinsAG MANE Select ENSP00000352606.4:n.125-46_125-45delinsAG
ENST00000359595.7:c.125-46_125-45delinsAG ENSP00000352606.3:n.125-46_125-45delinsAG
ENST00000558770.5:c.125-46_125-45delinsAG ENSP00000456458.1:n.125-46_125-45delinsAG
ENST00000562281.1:c.125-46_125-45delinsAG ENSP00000456985.1:n.125-46_125-45delinsAG
ENST00000562889.5:c.311-46_311-45delinsAG ENSP00000457180.1:n.311-46_311-45delinsAG
ENST00000563808.1:n.227-46_227-45delinsAG
NM_001307952.1:c.311-46_311-45delinsAG NP_001294881.1:n.311-46_311-45delinsAG
NM_178232.2:c.125-46_125-45delinsAG NP_839946.1:n.125-46_125-45delinsAG
NM_178232.3:c.125-46_125-45delinsAG NP_839946.1:n.125-46_125-45delinsAG
XM_011521261.1:c.257-46_257-45delinsAG XP_011519563.1:n.257-46_257-45delinsAG
XR_243204.1:n.340-46_340-45delinsAG
XR_931756.1:n.446-46_446-45delinsAG
XM_017021934.2:c.311-46_311-45delinsAG XP_016877423.1:n.311-46_311-45delinsAG
XM_017021935.2:c.-255-46_-255-45delinsAG XP_016877424.1:n.-255-46_-255-45delinsAG
XM_017021936.2:c.-255-46_-255-45delinsAG XP_016877425.1:n.-255-46_-255-45delinsAG
XR_001751098.2:n.458-46_458-45delinsAG
XR_931756.3:n.459-46_459-45delinsAG
NM_001307952.2:c.311-46_311-45delinsAG NP_001294881.1:n.311-46_311-45delinsAG
NM_178232.4:c.125-46_125-45delinsAG MANE Select NP_839946.1:n.125-46_125-45delinsAG