Canonical Allele Identifier: CA2580098661

Gene: HLCS

Linked Data

• ClinVar Variation Id: 1724578
• ClinVar RCV Id: RCV002309846

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36936528_36936529del , CM000683.2:g.36936528_36936529del	GRCh38
NC_000021.8:g.38308828_38308829del , CM000683.1:g.38308828_38308829del	GRCh37
NC_000021.7:g.37230698_37230699del	NCBI36
NG_016193.1:g.58709_58710del
NG_016193.2:g.58867_58868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.1358_1359del MANE Select	ENSP00000502087.2:p.His453ProfsTer4
ENST00000674895.2:c.917_918del	ENSP00000502087.1:p.His306ProfsTer4
ENST00000675057.1:c.917_918del	ENSP00000501832.1:p.His306ProfsTer4
ENST00000675307.1:c.917_918del	ENSP00000501750.1:p.His306ProfsTer4
ENST00000336648.8:c.917_918del	ENSP00000338387.3:p.His306ProfsTer4
ENST00000399120.5:c.917_918del	ENSP00000382071.1:p.His306ProfsTer4
ENST00000612277.4:c.917_918del	ENSP00000479939.1:p.His306ProfsTer4
NM_000411.6:c.917_918del	NP_000402.3:p.His306ProfsTer4
NM_001242784.1:c.917_918del	NP_001229713.1:p.His306ProfsTer4
NM_001242785.1:c.917_918del	NP_001229714.1:p.His306ProfsTer4
XM_005260953.2:c.1358_1359del	XP_005261010.1:p.His453ProfsTer4
XM_005260954.1:c.1358_1359del	XP_005261011.1:p.His453ProfsTer4
XM_005260955.2:c.917_918del	XP_005261012.1:p.His306ProfsTer4
XM_005260956.2:c.917_918del	XP_005261013.1:p.His306ProfsTer4
XM_006723994.1:c.917_918del	XP_006724057.1:p.His306ProfsTer4
XM_006723995.1:c.917_918del	XP_006724058.1:p.His306ProfsTer4
XM_011529538.1:c.917_918del	XP_011527840.1:p.His306ProfsTer4
XM_011529539.1:c.917_918del	XP_011527841.1:p.His306ProfsTer4
XM_011529540.1:c.1358_1359del	XP_011527842.1:p.His453ProfsTer4
XM_011529541.1:c.917_918del	XP_011527843.1:p.His306ProfsTer4
XM_011529542.1:c.1358_1359del	XP_011527844.1:p.His453ProfsTer4
NM_000411.7:c.917_918del	NP_000402.3:p.His306ProfsTer4
NM_001242784.2:c.917_918del	NP_001229713.1:p.His306ProfsTer4
NM_001242785.2:c.917_918del	NP_001229714.1:p.His306ProfsTer4
NM_001352514.1:c.1358_1359del	NP_001339443.1:p.His453ProfsTer4
NM_001352515.1:c.917_918del	NP_001339444.1:p.His306ProfsTer4
NM_001352516.1:c.917_918del	NP_001339445.1:p.His306ProfsTer4
NM_001352517.1:c.917_918del	NP_001339446.1:p.His306ProfsTer4
NM_001352518.1:c.917_918del	NP_001339447.1:p.His306ProfsTer4
NR_148020.1:n.1400_1401del
NR_148021.1:n.1374_1375del
XM_011529539.3:c.917_918del	XP_011527841.1:p.His306ProfsTer4
XM_011529540.2:c.1358_1359del	XP_011527842.1:p.His453ProfsTer4
XM_017028330.1:c.917_918del	XP_016883819.1:p.His306ProfsTer4
XM_024452065.1:c.746_747del	XP_024307833.1:p.His249ProfsTer4
XM_024452066.1:c.746_747del	XP_024307834.1:p.His249ProfsTer4
XR_001754835.1:n.1359_1360del
XR_001754836.1:n.1359_1360del
XR_001754837.2:n.1359_1360del
XR_001754840.1:n.1359_1360del
NM_000411.8:c.917_918del	NP_000402.3:p.His306ProfsTer4
NM_001242784.3:c.917_918del	NP_001229713.1:p.His306ProfsTer4
NM_001352514.2:c.1358_1359del MANE Select	NP_001339443.1:p.His453ProfsTer4
NM_001352515.2:c.917_918del	NP_001339444.1:p.His306ProfsTer4
NM_001352516.2:c.917_918del	NP_001339445.1:p.His306ProfsTer4
NR_148020.2:n.1217_1218del
NM_001352518.2:c.917_918del	NP_001339447.1:p.His306ProfsTer4