Canonical Allele Identifier: CA10020235

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36754366_36754368dup , CM000683.2:g.36754366_36754368dup	GRCh38
NC_000021.8:g.38126667_38126669dup , CM000683.1:g.38126667_38126669dup	GRCh37
NC_000021.7:g.37048537_37048539dup	NCBI36
NG_016193.1:g.240869_240871dup
NG_016193.2:g.241028_241030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.2501_2503dup MANE Select	ENSP00000502087.2:p.Val834_Gly835insVal
ENST00000674895.2:c.2060_2062dup	ENSP00000502087.1:p.Val687_Gly688insVal
ENST00000675057.1:c.*470_*472dup	ENSP00000501832.1:n.*470_*472dup
ENST00000675307.1:c.2060_2062dup	ENSP00000501750.1:p.Val687_Gly688insVal
ENST00000336648.8:c.2060_2062dup	ENSP00000338387.3:p.Val687_Gly688insVal
ENST00000399120.5:c.2060_2062dup	ENSP00000382071.1:p.Val687_Gly688insVal
ENST00000612277.4:c.2060_2062dup	ENSP00000479939.1:p.Val687_Gly688insVal
NM_000411.6:c.2060_2062dup	NP_000402.3:p.Val687_Gly688insVal
NM_001242784.1:c.2060_2062dup	NP_001229713.1:p.Val687_Gly688insVal
NM_001242785.1:c.2060_2062dup	NP_001229714.1:p.Val687_Gly688insVal
XM_005260953.2:c.2501_2503dup	XP_005261010.1:p.Val834_Gly835insVal
XM_005260955.2:c.2060_2062dup	XP_005261012.1:p.Val687_Gly688insVal
XM_005260956.2:c.2060_2062dup	XP_005261013.1:p.Val687_Gly688insVal
XM_006723994.1:c.2060_2062dup	XP_006724057.1:p.Val687_Gly688insVal
XM_006723995.1:c.2060_2062dup	XP_006724058.1:p.Val687_Gly688insVal
XM_011529538.1:c.2060_2062dup	XP_011527840.1:p.Val687_Gly688insVal
XM_011529539.1:c.2060_2062dup	XP_011527841.1:p.Val687_Gly688insVal
XM_011529541.1:c.2060_2062dup	XP_011527843.1:p.Val687_Gly688insVal
NM_000411.7:c.2060_2062dup	NP_000402.3:p.Val687_Gly688insVal
NM_001242784.2:c.2060_2062dup	NP_001229713.1:p.Val687_Gly688insVal
NM_001242785.2:c.2060_2062dup	NP_001229714.1:p.Val687_Gly688insVal
NM_001352514.1:c.2501_2503dup	NP_001339443.1:p.Val834_Gly835insVal
NM_001352515.1:c.2060_2062dup	NP_001339444.1:p.Val687_Gly688insVal
NM_001352516.1:c.2060_2062dup	NP_001339445.1:p.Val687_Gly688insVal
NM_001352517.1:c.2060_2062dup	NP_001339446.1:p.Val687_Gly688insVal
NM_001352518.1:c.2060_2062dup	NP_001339447.1:p.Val687_Gly688insVal
NR_148020.1:n.2768_2770dup
NR_148021.1:n.2742_2744dup
XM_011529539.3:c.2060_2062dup	XP_011527841.1:p.Val687_Gly688insVal
XM_017028330.1:c.2060_2062dup	XP_016883819.1:p.Val687_Gly688insVal
XM_024452065.1:c.1889_1891dup	XP_024307833.1:p.Val630_Gly631insVal
XM_024452066.1:c.1889_1891dup	XP_024307834.1:p.Val630_Gly631insVal
XR_001754835.1:n.2727_2729dup
XR_001754836.1:n.2341_2343dup
XR_001754840.1:n.2551_2553dup
NM_000411.8:c.2060_2062dup	NP_000402.3:p.Val687_Gly688insVal
NM_001242784.3:c.2060_2062dup	NP_001229713.1:p.Val687_Gly688insVal
NM_001352514.2:c.2501_2503dup MANE Select	NP_001339443.1:p.Val834_Gly835insVal
NM_001352515.2:c.2060_2062dup	NP_001339444.1:p.Val687_Gly688insVal
NM_001352516.2:c.2060_2062dup	NP_001339445.1:p.Val687_Gly688insVal
NR_148020.2:n.2585_2587dup
NM_001352518.2:c.2060_2062dup	NP_001339447.1:p.Val687_Gly688insVal