Canonical Allele Identifier: CA278024
Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 1913
ClinVar RCV Id: RCV000001990
dbSNP Id: rs773102942

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36936790dup , CM000683.2:g.36936790dup GRCh38
NC_000021.8:g.38309090dup , CM000683.1:g.38309090dup GRCh37
NC_000021.7:g.37230960dup NCBI36
NG_016193.1:g.58447dup
NG_016193.2:g.58605dup

Transcript Alleles

HGVS Amino-acid change
ENST00000674895.3:c.1096dup MANE Select ENSP00000502087.2:p.Ile366AsnfsTer?
ENST00000674895.2:c.655dup ENSP00000502087.1:p.Ile219AsnfsTer?
ENST00000675057.1:c.655dup ENSP00000501832.1:p.Ile219AsnfsTer?
ENST00000675307.1:c.655dup ENSP00000501750.1:p.Ile219AsnfsTer?
ENST00000336648.8:c.655dup ENSP00000338387.3:p.Ile219AsnfsTer?
ENST00000399120.5:c.655dup ENSP00000382071.1:p.Ile219AsnfsTer?
ENST00000612277.4:c.655dup ENSP00000479939.1:p.Ile219AsnfsTer?
NM_000411.6:c.655dup NP_000402.3:p.Ile219AsnfsTer?
NM_001242784.1:c.655dup NP_001229713.1:p.Ile219AsnfsTer?
NM_001242785.1:c.655dup NP_001229714.1:p.Ile219AsnfsTer?
XM_005260953.2:c.1096dup XP_005261010.1:p.Ile366AsnfsTer?
XM_005260954.1:c.1096dup XP_005261011.1:p.Ile366AsnfsTer?
XM_005260955.2:c.655dup XP_005261012.1:p.Ile219AsnfsTer?
XM_005260956.2:c.655dup XP_005261013.1:p.Ile219AsnfsTer?
XM_006723994.1:c.655dup XP_006724057.1:p.Ile219AsnfsTer?
XM_006723995.1:c.655dup XP_006724058.1:p.Ile219AsnfsTer?
XM_011529538.1:c.655dup XP_011527840.1:p.Ile219AsnfsTer?
XM_011529539.1:c.655dup XP_011527841.1:p.Ile219AsnfsTer?
XM_011529540.1:c.1096dup XP_011527842.1:p.Ile366AsnfsTer?
XM_011529541.1:c.655dup XP_011527843.1:p.Ile219AsnfsTer?
XM_011529542.1:c.1096dup XP_011527844.1:p.Ile366AsnfsTer?
NM_000411.7:c.655dup NP_000402.3:p.Ile219AsnfsTer?
NM_001242784.2:c.655dup NP_001229713.1:p.Ile219AsnfsTer?
NM_001242785.2:c.655dup NP_001229714.1:p.Ile219AsnfsTer?
NM_001352514.1:c.1096dup NP_001339443.1:p.Ile366AsnfsTer?
NM_001352515.1:c.655dup NP_001339444.1:p.Ile219AsnfsTer?
NM_001352516.1:c.655dup NP_001339445.1:p.Ile219AsnfsTer?
NM_001352517.1:c.655dup NP_001339446.1:p.Ile219AsnfsTer?
NM_001352518.1:c.655dup NP_001339447.1:p.Ile219AsnfsTer?
NR_148020.1:n.1138dup
NR_148021.1:n.1112dup
XM_011529539.3:c.655dup XP_011527841.1:p.Ile219AsnfsTer?
XM_011529540.2:c.1096dup XP_011527842.1:p.Ile366AsnfsTer?
XM_017028330.1:c.655dup XP_016883819.1:p.Ile219AsnfsTer?
XM_024452065.1:c.484dup XP_024307833.1:p.Ile162AsnfsTer?
XM_024452066.1:c.484dup XP_024307834.1:p.Ile162AsnfsTer?
XR_001754835.1:n.1097dup
XR_001754836.1:n.1097dup
XR_001754837.2:n.1097dup
XR_001754840.1:n.1097dup
NM_000411.8:c.655dup NP_000402.3:p.Ile219AsnfsTer?
NM_001242784.3:c.655dup NP_001229713.1:p.Ile219AsnfsTer?
NM_001352514.2:c.1096dup MANE Select NP_001339443.1:p.Ile366AsnfsTer?
NM_001352515.2:c.655dup NP_001339444.1:p.Ile219AsnfsTer?
NM_001352516.2:c.655dup NP_001339445.1:p.Ile219AsnfsTer?
NR_148020.2:n.955dup
NM_001352518.2:c.655dup NP_001339447.1:p.Ile219AsnfsTer?