Canonical Allele Identifier: CA2388157847

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36759594_36759597delinsGCTC , CM000683.2:g.36759594_36759597delinsGCTC	GRCh38
NC_000021.8:g.38131895_38131898delinsGCTC , CM000683.1:g.38131895_38131898delinsGCTC	GRCh37
NC_000021.7:g.37053765_37053768delinsGCTC	NCBI36
NG_016193.1:g.235639_235642delinsGAGC
NG_016193.2:g.235798_235801delinsGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.2236+130_2236+133delinsGAGC MANE Select	ENSP00000502087.2:n.2236+130_2236+133delinsGAGC
ENST00000674895.2:c.1795+130_1795+133delinsGAGC	ENSP00000502087.1:n.1795+130_1795+133delinsGAGC
ENST00000675057.1:c.1795+130_1795+133delinsGAGC	ENSP00000501832.1:n.1795+130_1795+133delinsGAGC
ENST00000675307.1:c.1795+130_1795+133delinsGAGC	ENSP00000501750.1:n.1795+130_1795+133delinsGAGC
ENST00000336648.8:c.1795+130_1795+133delinsGAGC	ENSP00000338387.3:n.1795+130_1795+133delinsGAGC
ENST00000399120.5:c.1795+130_1795+133delinsGAGC	ENSP00000382071.1:n.1795+130_1795+133delinsGAGC
ENST00000612277.4:c.1795+130_1795+133delinsGAGC	ENSP00000479939.1:n.1795+130_1795+133delinsGAGC
NM_000411.6:c.1795+130_1795+133delinsGAGC	NP_000402.3:n.1795+130_1795+133delinsGAGC
NM_001242784.1:c.1795+130_1795+133delinsGAGC	NP_001229713.1:n.1795+130_1795+133delinsGAGC
NM_001242785.1:c.1795+130_1795+133delinsGAGC	NP_001229714.1:n.1795+130_1795+133delinsGAGC
XM_005260953.2:c.2236+130_2236+133delinsGAGC	XP_005261010.1:n.2236+130_2236+133delinsGAGC
XM_005260954.1:c.2236+130_2236+133delinsGAGC	XP_005261011.1:n.2236+130_2236+133delinsGAGC
XM_005260955.2:c.1795+130_1795+133delinsGAGC	XP_005261012.1:n.1795+130_1795+133delinsGAGC
XM_005260956.2:c.1795+130_1795+133delinsGAGC	XP_005261013.1:n.1795+130_1795+133delinsGAGC
XM_006723994.1:c.1795+130_1795+133delinsGAGC	XP_006724057.1:n.1795+130_1795+133delinsGAGC
XM_006723995.1:c.1795+130_1795+133delinsGAGC	XP_006724058.1:n.1795+130_1795+133delinsGAGC
XM_011529538.1:c.1795+130_1795+133delinsGAGC	XP_011527840.1:n.1795+130_1795+133delinsGAGC
XM_011529539.1:c.1795+130_1795+133delinsGAGC	XP_011527841.1:n.1795+130_1795+133delinsGAGC
XM_011529541.1:c.1795+130_1795+133delinsGAGC	XP_011527843.1:n.1795+130_1795+133delinsGAGC
NM_000411.7:c.1795+130_1795+133delinsGAGC	NP_000402.3:n.1795+130_1795+133delinsGAGC
NM_001242784.2:c.1795+130_1795+133delinsGAGC	NP_001229713.1:n.1795+130_1795+133delinsGAGC
NM_001242785.2:c.1795+130_1795+133delinsGAGC	NP_001229714.1:n.1795+130_1795+133delinsGAGC
NM_001352514.1:c.2236+130_2236+133delinsGAGC	NP_001339443.1:n.2236+130_2236+133delinsGAGC
NM_001352515.1:c.1795+130_1795+133delinsGAGC	NP_001339444.1:n.1795+130_1795+133delinsGAGC
NM_001352516.1:c.1795+130_1795+133delinsGAGC	NP_001339445.1:n.1795+130_1795+133delinsGAGC
NM_001352517.1:c.1795+130_1795+133delinsGAGC	NP_001339446.1:n.1795+130_1795+133delinsGAGC
NM_001352518.1:c.1795+130_1795+133delinsGAGC	NP_001339447.1:n.1795+130_1795+133delinsGAGC
NR_148020.1:n.2278+130_2278+133delinsGAGC
NR_148021.1:n.2252+130_2252+133delinsGAGC
XM_011529539.3:c.1795+130_1795+133delinsGAGC	XP_011527841.1:n.1795+130_1795+133delinsGAGC
XM_017028330.1:c.1795+130_1795+133delinsGAGC	XP_016883819.1:n.1795+130_1795+133delinsGAGC
XM_024452065.1:c.1624+130_1624+133delinsGAGC	XP_024307833.1:n.1624+130_1624+133delinsGAGC
XM_024452066.1:c.1624+130_1624+133delinsGAGC	XP_024307834.1:n.1624+130_1624+133delinsGAGC
XR_001754835.1:n.2237+130_2237+133delinsGAGC
XR_001754836.1:n.2076+130_2076+133delinsGAGC
XR_001754837.2:n.2076+130_2076+133delinsGAGC
XR_001754840.1:n.2286+130_2286+133delinsGAGC
NM_000411.8:c.1795+130_1795+133delinsGAGC	NP_000402.3:n.1795+130_1795+133delinsGAGC
NM_001242784.3:c.1795+130_1795+133delinsGAGC	NP_001229713.1:n.1795+130_1795+133delinsGAGC
NM_001352514.2:c.2236+130_2236+133delinsGAGC MANE Select	NP_001339443.1:n.2236+130_2236+133delinsGAGC
NM_001352515.2:c.1795+130_1795+133delinsGAGC	NP_001339444.1:n.1795+130_1795+133delinsGAGC
NM_001352516.2:c.1795+130_1795+133delinsGAGC	NP_001339445.1:n.1795+130_1795+133delinsGAGC
NR_148020.2:n.2095+130_2095+133delinsGAGC
NM_001352518.2:c.1795+130_1795+133delinsGAGC	NP_001339447.1:n.1795+130_1795+133delinsGAGC