Canonical Allele Identifier: CA2580098719

Gene: HLCS

Linked Data

• ClinVar Variation Id: 2440735
• ClinVar RCV Id: RCV003146036
• gnomAD v4: 21-36936927-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36936930dup , CM000683.2:g.36936930dup	GRCh38
NC_000021.8:g.38309230dup , CM000683.1:g.38309230dup	GRCh37
NC_000021.7:g.37231100dup	NCBI36
NG_016193.1:g.58309dup
NG_016193.2:g.58467dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.958dup MANE Select	ENSP00000502087.2:p.Gln320ProfsTer21
ENST00000674895.2:c.517dup	ENSP00000502087.1:p.Gln173ProfsTer21
ENST00000675057.1:c.517dup	ENSP00000501832.1:p.Gln173ProfsTer21
ENST00000675307.1:c.517dup	ENSP00000501750.1:p.Gln173ProfsTer21
ENST00000336648.8:c.517dup	ENSP00000338387.3:p.Gln173ProfsTer21
ENST00000399120.5:c.517dup	ENSP00000382071.1:p.Gln173ProfsTer21
ENST00000612277.4:c.517dup	ENSP00000479939.1:p.Gln173ProfsTer21
NM_000411.6:c.517dup	NP_000402.3:p.Gln173ProfsTer21
NM_001242784.1:c.517dup	NP_001229713.1:p.Gln173ProfsTer21
NM_001242785.1:c.517dup	NP_001229714.1:p.Gln173ProfsTer21
XM_005260953.2:c.958dup	XP_005261010.1:p.Gln320ProfsTer21
XM_005260954.1:c.958dup	XP_005261011.1:p.Gln320ProfsTer21
XM_005260955.2:c.517dup	XP_005261012.1:p.Gln173ProfsTer21
XM_005260956.2:c.517dup	XP_005261013.1:p.Gln173ProfsTer21
XM_006723994.1:c.517dup	XP_006724057.1:p.Gln173ProfsTer21
XM_006723995.1:c.517dup	XP_006724058.1:p.Gln173ProfsTer21
XM_011529538.1:c.517dup	XP_011527840.1:p.Gln173ProfsTer21
XM_011529539.1:c.517dup	XP_011527841.1:p.Gln173ProfsTer21
XM_011529540.1:c.958dup	XP_011527842.1:p.Gln320ProfsTer21
XM_011529541.1:c.517dup	XP_011527843.1:p.Gln173ProfsTer21
XM_011529542.1:c.958dup	XP_011527844.1:p.Gln320ProfsTer21
NM_000411.7:c.517dup	NP_000402.3:p.Gln173ProfsTer21
NM_001242784.2:c.517dup	NP_001229713.1:p.Gln173ProfsTer21
NM_001242785.2:c.517dup	NP_001229714.1:p.Gln173ProfsTer21
NM_001352514.1:c.958dup	NP_001339443.1:p.Gln320ProfsTer21
NM_001352515.1:c.517dup	NP_001339444.1:p.Gln173ProfsTer21
NM_001352516.1:c.517dup	NP_001339445.1:p.Gln173ProfsTer21
NM_001352517.1:c.517dup	NP_001339446.1:p.Gln173ProfsTer21
NM_001352518.1:c.517dup	NP_001339447.1:p.Gln173ProfsTer21
NR_148020.1:n.1000dup
NR_148021.1:n.974dup
XM_011529539.3:c.517dup	XP_011527841.1:p.Gln173ProfsTer21
XM_011529540.2:c.958dup	XP_011527842.1:p.Gln320ProfsTer21
XM_017028330.1:c.517dup	XP_016883819.1:p.Gln173ProfsTer21
XM_024452065.1:c.346dup	XP_024307833.1:p.Gln116ProfsTer21
XM_024452066.1:c.346dup	XP_024307834.1:p.Gln116ProfsTer21
XR_001754835.1:n.959dup
XR_001754836.1:n.959dup
XR_001754837.2:n.959dup
XR_001754840.1:n.959dup
NM_000411.8:c.517dup	NP_000402.3:p.Gln173ProfsTer21
NM_001242784.3:c.517dup	NP_001229713.1:p.Gln173ProfsTer21
NM_001352514.2:c.958dup MANE Select	NP_001339443.1:p.Gln320ProfsTer21
NM_001352515.2:c.517dup	NP_001339444.1:p.Gln173ProfsTer21
NM_001352516.2:c.517dup	NP_001339445.1:p.Gln173ProfsTer21
NR_148020.2:n.817dup
NM_001352518.2:c.517dup	NP_001339447.1:p.Gln173ProfsTer21