Canonical Allele Identifier: CA2577486893

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36936708_36936718del , CM000683.2:g.36936708_36936718del	GRCh38
NC_000021.8:g.38309008_38309018del , CM000683.1:g.38309008_38309018del	GRCh37
NC_000021.7:g.37230878_37230888del	NCBI36
NG_016193.1:g.58521_58531del
NG_016193.2:g.58679_58689del

Transcript Alleles

HGVS	Amino-acid change
ENST00000674895.3:c.1170_1180del MANE Select	ENSP00000502087.2:p.Leu391PhefsTer29
ENST00000674895.2:c.729_739del	ENSP00000502087.1:p.Leu244PhefsTer29
ENST00000675057.1:c.729_739del	ENSP00000501832.1:p.Leu244PhefsTer29
ENST00000675307.1:c.729_739del	ENSP00000501750.1:p.Leu244PhefsTer29
ENST00000336648.8:c.729_739del	ENSP00000338387.3:p.Leu244PhefsTer29
ENST00000399120.5:c.729_739del	ENSP00000382071.1:p.Leu244PhefsTer29
ENST00000612277.4:c.729_739del	ENSP00000479939.1:p.Leu244PhefsTer29
NM_000411.6:c.729_739del	NP_000402.3:p.Leu244PhefsTer29
NM_001242784.1:c.729_739del	NP_001229713.1:p.Leu244PhefsTer29
NM_001242785.1:c.729_739del	NP_001229714.1:p.Leu244PhefsTer29
XM_005260953.2:c.1170_1180del	XP_005261010.1:p.Leu391PhefsTer29
XM_005260954.1:c.1170_1180del	XP_005261011.1:p.Leu391PhefsTer29
XM_005260955.2:c.729_739del	XP_005261012.1:p.Leu244PhefsTer29
XM_005260956.2:c.729_739del	XP_005261013.1:p.Leu244PhefsTer29
XM_006723994.1:c.729_739del	XP_006724057.1:p.Leu244PhefsTer29
XM_006723995.1:c.729_739del	XP_006724058.1:p.Leu244PhefsTer29
XM_011529538.1:c.729_739del	XP_011527840.1:p.Leu244PhefsTer29
XM_011529539.1:c.729_739del	XP_011527841.1:p.Leu244PhefsTer29
XM_011529540.1:c.1170_1180del	XP_011527842.1:p.Leu391PhefsTer29
XM_011529541.1:c.729_739del	XP_011527843.1:p.Leu244PhefsTer29
XM_011529542.1:c.1170_1180del	XP_011527844.1:p.Leu391PhefsTer29
NM_000411.7:c.729_739del	NP_000402.3:p.Leu244PhefsTer29
NM_001242784.2:c.729_739del	NP_001229713.1:p.Leu244PhefsTer29
NM_001242785.2:c.729_739del	NP_001229714.1:p.Leu244PhefsTer29
NM_001352514.1:c.1170_1180del	NP_001339443.1:p.Leu391PhefsTer29
NM_001352515.1:c.729_739del	NP_001339444.1:p.Leu244PhefsTer29
NM_001352516.1:c.729_739del	NP_001339445.1:p.Leu244PhefsTer29
NM_001352517.1:c.729_739del	NP_001339446.1:p.Leu244PhefsTer29
NM_001352518.1:c.729_739del	NP_001339447.1:p.Leu244PhefsTer29
NR_148020.1:n.1212_1222del
NR_148021.1:n.1186_1196del
XM_011529539.3:c.729_739del	XP_011527841.1:p.Leu244PhefsTer29
XM_011529540.2:c.1170_1180del	XP_011527842.1:p.Leu391PhefsTer29
XM_017028330.1:c.729_739del	XP_016883819.1:p.Leu244PhefsTer29
XM_024452065.1:c.558_568del	XP_024307833.1:p.Leu187PhefsTer29
XM_024452066.1:c.558_568del	XP_024307834.1:p.Leu187PhefsTer29
XR_001754835.1:n.1171_1181del
XR_001754836.1:n.1171_1181del
XR_001754837.2:n.1171_1181del
XR_001754840.1:n.1171_1181del
NM_000411.8:c.729_739del	NP_000402.3:p.Leu244PhefsTer29
NM_001242784.3:c.729_739del	NP_001229713.1:p.Leu244PhefsTer29
NM_001352514.2:c.1170_1180del MANE Select	NP_001339443.1:p.Leu391PhefsTer29
NM_001352515.2:c.729_739del	NP_001339444.1:p.Leu244PhefsTer29
NM_001352516.2:c.729_739del	NP_001339445.1:p.Leu244PhefsTer29
NR_148020.2:n.1029_1039del
NM_001352518.2:c.729_739del	NP_001339447.1:p.Leu244PhefsTer29