Canonical Allele Identifier: CA2194346784
Gene: HAPLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88881764_88881765delinsGC , CM000677.2:g.88881764_88881765delinsGC GRCh38
NC_000015.9:g.89424995_89424996delinsGC , CM000677.1:g.89424995_89424996delinsGC GRCh37
NC_000015.8:g.87225999_87226000delinsGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359595.8:c.125-40_125-39delinsGC MANE Select ENSP00000352606.4:n.125-40_125-39delinsGC
ENST00000359595.7:c.125-40_125-39delinsGC ENSP00000352606.3:n.125-40_125-39delinsGC
ENST00000558770.5:c.125-40_125-39delinsGC ENSP00000456458.1:n.125-40_125-39delinsGC
ENST00000562281.1:c.125-40_125-39delinsGC ENSP00000456985.1:n.125-40_125-39delinsGC
ENST00000562889.5:c.311-40_311-39delinsGC ENSP00000457180.1:n.311-40_311-39delinsGC
ENST00000563808.1:n.227-40_227-39delinsGC
NM_001307952.1:c.311-40_311-39delinsGC NP_001294881.1:n.311-40_311-39delinsGC
NM_178232.2:c.125-40_125-39delinsGC NP_839946.1:n.125-40_125-39delinsGC
NM_178232.3:c.125-40_125-39delinsGC NP_839946.1:n.125-40_125-39delinsGC
XM_011521261.1:c.257-40_257-39delinsGC XP_011519563.1:n.257-40_257-39delinsGC
XR_243204.1:n.340-40_340-39delinsGC
XR_931756.1:n.446-40_446-39delinsGC
XM_017021934.2:c.311-40_311-39delinsGC XP_016877423.1:n.311-40_311-39delinsGC
XM_017021935.2:c.-255-40_-255-39delinsGC XP_016877424.1:n.-255-40_-255-39delinsGC
XM_017021936.2:c.-255-40_-255-39delinsGC XP_016877425.1:n.-255-40_-255-39delinsGC
XR_001751098.2:n.458-40_458-39delinsGC
XR_931756.3:n.459-40_459-39delinsGC
NM_001307952.2:c.311-40_311-39delinsGC NP_001294881.1:n.311-40_311-39delinsGC
NM_178232.4:c.125-40_125-39delinsGC MANE Select NP_839946.1:n.125-40_125-39delinsGC