Canonical Allele Identifier: CA2388157787

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36759484_36759485delinsAG , CM000683.2:g.36759484_36759485delinsAG	GRCh38
NC_000021.8:g.38131785_38131786delinsAG , CM000683.1:g.38131785_38131786delinsAG	GRCh37
NC_000021.7:g.37053655_37053656delinsAG	NCBI36
NG_016193.1:g.235751_235752delinsCT
NG_016193.2:g.235910_235911delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.2236+242_2236+243delinsCT MANE Select	ENSP00000502087.2:n.2236+242_2236+243delinsCT
ENST00000674895.2:c.1795+242_1795+243delinsCT	ENSP00000502087.1:n.1795+242_1795+243delinsCT
ENST00000675057.1:c.1795+242_1795+243delinsCT	ENSP00000501832.1:n.1795+242_1795+243delinsCT
ENST00000675307.1:c.1795+242_1795+243delinsCT	ENSP00000501750.1:n.1795+242_1795+243delinsCT
ENST00000336648.8:c.1795+242_1795+243delinsCT	ENSP00000338387.3:n.1795+242_1795+243delinsCT
ENST00000399120.5:c.1795+242_1795+243delinsCT	ENSP00000382071.1:n.1795+242_1795+243delinsCT
ENST00000612277.4:c.1795+242_1795+243delinsCT	ENSP00000479939.1:n.1795+242_1795+243delinsCT
NM_000411.6:c.1795+242_1795+243delinsCT	NP_000402.3:n.1795+242_1795+243delinsCT
NM_001242784.1:c.1795+242_1795+243delinsCT	NP_001229713.1:n.1795+242_1795+243delinsCT
NM_001242785.1:c.1795+242_1795+243delinsCT	NP_001229714.1:n.1795+242_1795+243delinsCT
XM_005260953.2:c.2236+242_2236+243delinsCT	XP_005261010.1:n.2236+242_2236+243delinsCT
XM_005260954.1:c.2236+242_2236+243delinsCT	XP_005261011.1:n.2236+242_2236+243delinsCT
XM_005260955.2:c.1795+242_1795+243delinsCT	XP_005261012.1:n.1795+242_1795+243delinsCT
XM_005260956.2:c.1795+242_1795+243delinsCT	XP_005261013.1:n.1795+242_1795+243delinsCT
XM_006723994.1:c.1795+242_1795+243delinsCT	XP_006724057.1:n.1795+242_1795+243delinsCT
XM_006723995.1:c.1795+242_1795+243delinsCT	XP_006724058.1:n.1795+242_1795+243delinsCT
XM_011529538.1:c.1795+242_1795+243delinsCT	XP_011527840.1:n.1795+242_1795+243delinsCT
XM_011529539.1:c.1795+242_1795+243delinsCT	XP_011527841.1:n.1795+242_1795+243delinsCT
XM_011529541.1:c.1795+242_1795+243delinsCT	XP_011527843.1:n.1795+242_1795+243delinsCT
NM_000411.7:c.1795+242_1795+243delinsCT	NP_000402.3:n.1795+242_1795+243delinsCT
NM_001242784.2:c.1795+242_1795+243delinsCT	NP_001229713.1:n.1795+242_1795+243delinsCT
NM_001242785.2:c.1795+242_1795+243delinsCT	NP_001229714.1:n.1795+242_1795+243delinsCT
NM_001352514.1:c.2236+242_2236+243delinsCT	NP_001339443.1:n.2236+242_2236+243delinsCT
NM_001352515.1:c.1795+242_1795+243delinsCT	NP_001339444.1:n.1795+242_1795+243delinsCT
NM_001352516.1:c.1795+242_1795+243delinsCT	NP_001339445.1:n.1795+242_1795+243delinsCT
NM_001352517.1:c.1795+242_1795+243delinsCT	NP_001339446.1:n.1795+242_1795+243delinsCT
NM_001352518.1:c.1795+242_1795+243delinsCT	NP_001339447.1:n.1795+242_1795+243delinsCT
NR_148020.1:n.2278+242_2278+243delinsCT
NR_148021.1:n.2252+242_2252+243delinsCT
XM_011529539.3:c.1795+242_1795+243delinsCT	XP_011527841.1:n.1795+242_1795+243delinsCT
XM_017028330.1:c.1795+242_1795+243delinsCT	XP_016883819.1:n.1795+242_1795+243delinsCT
XM_024452065.1:c.1624+242_1624+243delinsCT	XP_024307833.1:n.1624+242_1624+243delinsCT
XM_024452066.1:c.1624+242_1624+243delinsCT	XP_024307834.1:n.1624+242_1624+243delinsCT
XR_001754835.1:n.2237+242_2237+243delinsCT
XR_001754836.1:n.2076+242_2076+243delinsCT
XR_001754837.2:n.2076+242_2076+243delinsCT
XR_001754840.1:n.2286+242_2286+243delinsCT
NM_000411.8:c.1795+242_1795+243delinsCT	NP_000402.3:n.1795+242_1795+243delinsCT
NM_001242784.3:c.1795+242_1795+243delinsCT	NP_001229713.1:n.1795+242_1795+243delinsCT
NM_001352514.2:c.2236+242_2236+243delinsCT MANE Select	NP_001339443.1:n.2236+242_2236+243delinsCT
NM_001352515.2:c.1795+242_1795+243delinsCT	NP_001339444.1:n.1795+242_1795+243delinsCT
NM_001352516.2:c.1795+242_1795+243delinsCT	NP_001339445.1:n.1795+242_1795+243delinsCT
NR_148020.2:n.2095+242_2095+243delinsCT
NM_001352518.2:c.1795+242_1795+243delinsCT	NP_001339447.1:n.1795+242_1795+243delinsCT