Canonical Allele Identifier: CA2388156503

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36756540_36756541del , CM000683.2:g.36756540_36756541del	GRCh38
NC_000021.8:g.38128841_38128842del , CM000683.1:g.38128841_38128842del	GRCh37
NC_000021.7:g.37050711_37050712del	NCBI36
NG_016193.1:g.238695_238696del
NG_016193.2:g.238854_238855del

Transcript Alleles

HGVS	Amino-acid Change
NM_001352514.2:c.2450+1_2450+2del MANE Select	NP_001339443.1:n.2450+1_2450+2del
ENST00000674895.3:c.2450+1_2450+2del MANE Select	ENSP00000502087.2:n.2450+1_2450+2del
NM_000411.6:c.2009+1_2009+2del	NP_000402.3:n.2009+1_2009+2del
NM_000411.7:c.2009+1_2009+2del	NP_000402.3:n.2009+1_2009+2del
NM_000411.8:c.2009+1_2009+2del	NP_000402.3:n.2009+1_2009+2del
NM_001242784.1:c.2009+1_2009+2del	NP_001229713.1:n.2009+1_2009+2del
NM_001242784.2:c.2009+1_2009+2del	NP_001229713.1:n.2009+1_2009+2del
NM_001242784.3:c.2009+1_2009+2del	NP_001229713.1:n.2009+1_2009+2del
NM_001242785.1:c.2009+1_2009+2del	NP_001229714.1:n.2009+1_2009+2del
NM_001242785.2:c.2009+1_2009+2del	NP_001229714.1:n.2009+1_2009+2del
NM_001352514.1:c.2450+1_2450+2del	NP_001339443.1:n.2450+1_2450+2del
NM_001352515.1:c.2009+1_2009+2del	NP_001339444.1:n.2009+1_2009+2del
NM_001352515.2:c.2009+1_2009+2del	NP_001339444.1:n.2009+1_2009+2del
NM_001352516.1:c.2009+1_2009+2del	NP_001339445.1:n.2009+1_2009+2del
NM_001352516.2:c.2009+1_2009+2del	NP_001339445.1:n.2009+1_2009+2del
NM_001352517.1:c.2009+1_2009+2del	NP_001339446.1:n.2009+1_2009+2del
NM_001352518.1:c.2009+1_2009+2del	NP_001339447.1:n.2009+1_2009+2del
NM_001352518.2:c.2009+1_2009+2del	NP_001339447.1:n.2009+1_2009+2del
NR_148020.1:n.2717+1_2717+2del
NR_148020.2:n.2534+1_2534+2del
NR_148021.1:n.2691+1_2691+2del
ENST00000336648.8:c.2009+1_2009+2del	ENSP00000338387.3:n.2009+1_2009+2del
ENST00000399120.5:c.2009+1_2009+2del	ENSP00000382071.1:n.2009+1_2009+2del
ENST00000612277.4:c.2009+1_2009+2del	ENSP00000479939.1:n.2009+1_2009+2del
ENST00000674895.2:c.2009+1_2009+2del	ENSP00000502087.1:n.2009+1_2009+2del
ENST00000675057.1:c.*419+1_*419+2del	ENSP00000501832.1:n.*419+1_*419+2del
ENST00000675307.1:c.2009+1_2009+2del	ENSP00000501750.1:n.2009+1_2009+2del
XM_005260953.2:c.2450+1_2450+2del	XP_005261010.1:n.2450+1_2450+2del
XM_005260955.2:c.2009+1_2009+2del	XP_005261012.1:n.2009+1_2009+2del
XM_005260956.2:c.2009+1_2009+2del	XP_005261013.1:n.2009+1_2009+2del
XM_006723994.1:c.2009+1_2009+2del	XP_006724057.1:n.2009+1_2009+2del
XM_006723995.1:c.2009+1_2009+2del	XP_006724058.1:n.2009+1_2009+2del
XM_011529538.1:c.2009+1_2009+2del	XP_011527840.1:n.2009+1_2009+2del
XM_011529539.1:c.2009+1_2009+2del	XP_011527841.1:n.2009+1_2009+2del
XM_011529539.3:c.2009+1_2009+2del	XP_011527841.1:n.2009+1_2009+2del
XM_011529541.1:c.2009+1_2009+2del	XP_011527843.1:n.2009+1_2009+2del
XM_017028330.1:c.2009+1_2009+2del	XP_016883819.1:n.2009+1_2009+2del
XM_024452065.1:c.1838+1_1838+2del	XP_024307833.1:n.1838+1_1838+2del
XM_024452066.1:c.1838+1_1838+2del	XP_024307834.1:n.1838+1_1838+2del
XR_001754835.1:n.2676+1_2676+2del
XR_001754836.1:n.2290+1_2290+2del
XR_001754840.1:n.2500+1_2500+2del