Canonical Allele Identifier: CA2580098720

Gene: HLCS

Linked Data

• ClinVar Variation Id: 1726933
• ClinVar RCV Id: RCV002308408

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36937064_36937065insCAATGGAA , CM000683.2:g.36937064_36937065insCAATGGAA	GRCh38
NC_000021.8:g.38309364_38309365insCAATGGAA , CM000683.1:g.38309364_38309365insCAATGGAA	GRCh37
NC_000021.7:g.37231234_37231235insCAATGGAA	NCBI36
NG_016193.1:g.58172_58173insTTCCATTG
NG_016193.2:g.58330_58331insTTCCATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.821_822insTTCCATTG MANE Select	ENSP00000502087.2:p.Ile275SerfsTer?
ENST00000674895.2:c.380_381insTTCCATTG	ENSP00000502087.1:p.Ile128SerfsTer?
ENST00000675057.1:c.380_381insTTCCATTG	ENSP00000501832.1:p.Ile128SerfsTer?
ENST00000675307.1:c.380_381insTTCCATTG	ENSP00000501750.1:p.Ile128SerfsTer?
ENST00000336648.8:c.380_381insTTCCATTG	ENSP00000338387.3:p.Ile128SerfsTer?
ENST00000399120.5:c.380_381insTTCCATTG	ENSP00000382071.1:p.Ile128SerfsTer?
ENST00000612277.4:c.380_381insTTCCATTG	ENSP00000479939.1:p.Ile128SerfsTer?
NM_000411.6:c.380_381insTTCCATTG	NP_000402.3:p.Ile128SerfsTer?
NM_001242784.1:c.380_381insTTCCATTG	NP_001229713.1:p.Ile128SerfsTer?
NM_001242785.1:c.380_381insTTCCATTG	NP_001229714.1:p.Ile128SerfsTer?
XM_005260953.2:c.821_822insTTCCATTG	XP_005261010.1:p.Ile275SerfsTer?
XM_005260954.1:c.821_822insTTCCATTG	XP_005261011.1:p.Ile275SerfsTer?
XM_005260955.2:c.380_381insTTCCATTG	XP_005261012.1:p.Ile128SerfsTer?
XM_005260956.2:c.380_381insTTCCATTG	XP_005261013.1:p.Ile128SerfsTer?
XM_006723994.1:c.380_381insTTCCATTG	XP_006724057.1:p.Ile128SerfsTer?
XM_006723995.1:c.380_381insTTCCATTG	XP_006724058.1:p.Ile128SerfsTer?
XM_011529538.1:c.380_381insTTCCATTG	XP_011527840.1:p.Ile128SerfsTer?
XM_011529539.1:c.380_381insTTCCATTG	XP_011527841.1:p.Ile128SerfsTer?
XM_011529540.1:c.821_822insTTCCATTG	XP_011527842.1:p.Ile275SerfsTer?
XM_011529541.1:c.380_381insTTCCATTG	XP_011527843.1:p.Ile128SerfsTer?
XM_011529542.1:c.821_822insTTCCATTG	XP_011527844.1:p.Ile275SerfsTer?
NM_000411.7:c.380_381insTTCCATTG	NP_000402.3:p.Ile128SerfsTer?
NM_001242784.2:c.380_381insTTCCATTG	NP_001229713.1:p.Ile128SerfsTer?
NM_001242785.2:c.380_381insTTCCATTG	NP_001229714.1:p.Ile128SerfsTer?
NM_001352514.1:c.821_822insTTCCATTG	NP_001339443.1:p.Ile275SerfsTer?
NM_001352515.1:c.380_381insTTCCATTG	NP_001339444.1:p.Ile128SerfsTer?
NM_001352516.1:c.380_381insTTCCATTG	NP_001339445.1:p.Ile128SerfsTer?
NM_001352517.1:c.380_381insTTCCATTG	NP_001339446.1:p.Ile128SerfsTer?
NM_001352518.1:c.380_381insTTCCATTG	NP_001339447.1:p.Ile128SerfsTer?
NR_148020.1:n.863_864insTTCCATTG
NR_148021.1:n.837_838insTTCCATTG
XM_011529539.3:c.380_381insTTCCATTG	XP_011527841.1:p.Ile128SerfsTer?
XM_011529540.2:c.821_822insTTCCATTG	XP_011527842.1:p.Ile275SerfsTer?
XM_017028330.1:c.380_381insTTCCATTG	XP_016883819.1:p.Ile128SerfsTer?
XM_024452065.1:c.209_210insTTCCATTG	XP_024307833.1:p.Ile71SerfsTer?
XM_024452066.1:c.209_210insTTCCATTG	XP_024307834.1:p.Ile71SerfsTer?
XR_001754835.1:n.822_823insTTCCATTG
XR_001754836.1:n.822_823insTTCCATTG
XR_001754837.2:n.822_823insTTCCATTG
XR_001754840.1:n.822_823insTTCCATTG
NM_000411.8:c.380_381insTTCCATTG	NP_000402.3:p.Ile128SerfsTer?
NM_001242784.3:c.380_381insTTCCATTG	NP_001229713.1:p.Ile128SerfsTer?
NM_001352514.2:c.821_822insTTCCATTG MANE Select	NP_001339443.1:p.Ile275SerfsTer?
NM_001352515.2:c.380_381insTTCCATTG	NP_001339444.1:p.Ile128SerfsTer?
NM_001352516.2:c.380_381insTTCCATTG	NP_001339445.1:p.Ile128SerfsTer?
NR_148020.2:n.680_681insTTCCATTG
NM_001352518.2:c.380_381insTTCCATTG	NP_001339447.1:p.Ile128SerfsTer?