Canonical Allele Identifier: CA2388161141
Gene: HLCS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36767026_36767029delinsTCTA , CM000683.2:g.36767026_36767029delinsTCTA GRCh38
NC_000021.8:g.38139327_38139330delinsTCTA , CM000683.1:g.38139327_38139330delinsTCTA GRCh37
NC_000021.7:g.37061197_37061200delinsTCTA NCBI36
NG_016193.1:g.228207_228210delinsTAGA
NG_016193.2:g.228366_228369delinsTAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000674895.3:c.1960+189_1960+192delinsTAGA MANE Select ENSP00000502087.2:n.1960+189_1960+192delinsTAGA
ENST00000674895.2:c.1519+189_1519+192delinsTAGA ENSP00000502087.1:n.1519+189_1519+192delinsTAGA
ENST00000675057.1:c.1519+189_1519+192delinsTAGA ENSP00000501832.1:n.1519+189_1519+192delinsTAGA
ENST00000675307.1:c.1519+189_1519+192delinsTAGA ENSP00000501750.1:n.1519+189_1519+192delinsTAGA
ENST00000336648.8:c.1519+189_1519+192delinsTAGA ENSP00000338387.3:n.1519+189_1519+192delinsTAGA
ENST00000399120.5:c.1519+189_1519+192delinsTAGA ENSP00000382071.1:n.1519+189_1519+192delinsTAGA
ENST00000612277.4:c.1519+189_1519+192delinsTAGA ENSP00000479939.1:n.1519+189_1519+192delinsTAGA
NM_000411.6:c.1519+189_1519+192delinsTAGA NP_000402.3:n.1519+189_1519+192delinsTAGA
NM_001242784.1:c.1519+189_1519+192delinsTAGA NP_001229713.1:n.1519+189_1519+192delinsTAGA
NM_001242785.1:c.1519+189_1519+192delinsTAGA NP_001229714.1:n.1519+189_1519+192delinsTAGA
XM_005260953.2:c.1960+189_1960+192delinsTAGA XP_005261010.1:n.1960+189_1960+192delinsTAGA
XM_005260954.1:c.1960+189_1960+192delinsTAGA XP_005261011.1:n.1960+189_1960+192delinsTAGA
XM_005260955.2:c.1519+189_1519+192delinsTAGA XP_005261012.1:n.1519+189_1519+192delinsTAGA
XM_005260956.2:c.1519+189_1519+192delinsTAGA XP_005261013.1:n.1519+189_1519+192delinsTAGA
XM_006723994.1:c.1519+189_1519+192delinsTAGA XP_006724057.1:n.1519+189_1519+192delinsTAGA
XM_006723995.1:c.1519+189_1519+192delinsTAGA XP_006724058.1:n.1519+189_1519+192delinsTAGA
XM_011529538.1:c.1519+189_1519+192delinsTAGA XP_011527840.1:n.1519+189_1519+192delinsTAGA
XM_011529539.1:c.1519+189_1519+192delinsTAGA XP_011527841.1:n.1519+189_1519+192delinsTAGA
XM_011529541.1:c.1519+189_1519+192delinsTAGA XP_011527843.1:n.1519+189_1519+192delinsTAGA
NM_000411.7:c.1519+189_1519+192delinsTAGA NP_000402.3:n.1519+189_1519+192delinsTAGA
NM_001242784.2:c.1519+189_1519+192delinsTAGA NP_001229713.1:n.1519+189_1519+192delinsTAGA
NM_001242785.2:c.1519+189_1519+192delinsTAGA NP_001229714.1:n.1519+189_1519+192delinsTAGA
NM_001352514.1:c.1960+189_1960+192delinsTAGA NP_001339443.1:n.1960+189_1960+192delinsTAGA
NM_001352515.1:c.1519+189_1519+192delinsTAGA NP_001339444.1:n.1519+189_1519+192delinsTAGA
NM_001352516.1:c.1519+189_1519+192delinsTAGA NP_001339445.1:n.1519+189_1519+192delinsTAGA
NM_001352517.1:c.1519+189_1519+192delinsTAGA NP_001339446.1:n.1519+189_1519+192delinsTAGA
NM_001352518.1:c.1519+189_1519+192delinsTAGA NP_001339447.1:n.1519+189_1519+192delinsTAGA
NR_148020.1:n.2002+189_2002+192delinsTAGA
NR_148021.1:n.1976+189_1976+192delinsTAGA
XM_011529539.3:c.1519+189_1519+192delinsTAGA XP_011527841.1:n.1519+189_1519+192delinsTAGA
XM_017028330.1:c.1519+189_1519+192delinsTAGA XP_016883819.1:n.1519+189_1519+192delinsTAGA
XM_024452065.1:c.1348+189_1348+192delinsTAGA XP_024307833.1:n.1348+189_1348+192delinsTAGA
XM_024452066.1:c.1348+189_1348+192delinsTAGA XP_024307834.1:n.1348+189_1348+192delinsTAGA
XR_001754835.1:n.1961+189_1961+192delinsTAGA
XR_001754836.1:n.1961+189_1961+192delinsTAGA
XR_001754837.2:n.1961+189_1961+192delinsTAGA
XR_001754840.1:n.2010+189_2010+192delinsTAGA
NM_000411.8:c.1519+189_1519+192delinsTAGA NP_000402.3:n.1519+189_1519+192delinsTAGA
NM_001242784.3:c.1519+189_1519+192delinsTAGA NP_001229713.1:n.1519+189_1519+192delinsTAGA
NM_001352514.2:c.1960+189_1960+192delinsTAGA MANE Select NP_001339443.1:n.1960+189_1960+192delinsTAGA
NM_001352515.2:c.1519+189_1519+192delinsTAGA NP_001339444.1:n.1519+189_1519+192delinsTAGA
NM_001352516.2:c.1519+189_1519+192delinsTAGA NP_001339445.1:n.1519+189_1519+192delinsTAGA
NR_148020.2:n.1819+189_1819+192delinsTAGA
NM_001352518.2:c.1519+189_1519+192delinsTAGA NP_001339447.1:n.1519+189_1519+192delinsTAGA