Canonical Allele Identifier: CA320414865

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36756254_36756255del , CM000683.2:g.36756254_36756255del	GRCh38
NC_000021.8:g.38128555_38128556del , CM000683.1:g.38128555_38128556del	GRCh37
NC_000021.7:g.37050425_37050426del	NCBI36
NG_016193.1:g.238981_238982del
NG_016193.2:g.239140_239141del

Transcript Alleles

HGVS	Amino-acid Change
NM_001352514.2:c.2450+287_2450+288del MANE Select	NP_001339443.1:n.2450+287_2450+288del
ENST00000674895.3:c.2450+287_2450+288del MANE Select	ENSP00000502087.2:n.2450+287_2450+288del
NM_000411.6:c.2009+287_2009+288del	NP_000402.3:n.2009+287_2009+288del
NM_000411.7:c.2009+287_2009+288del	NP_000402.3:n.2009+287_2009+288del
NM_000411.8:c.2009+287_2009+288del	NP_000402.3:n.2009+287_2009+288del
NM_001242784.1:c.2009+287_2009+288del	NP_001229713.1:n.2009+287_2009+288del
NM_001242784.2:c.2009+287_2009+288del	NP_001229713.1:n.2009+287_2009+288del
NM_001242784.3:c.2009+287_2009+288del	NP_001229713.1:n.2009+287_2009+288del
NM_001242785.1:c.2009+287_2009+288del	NP_001229714.1:n.2009+287_2009+288del
NM_001242785.2:c.2009+287_2009+288del	NP_001229714.1:n.2009+287_2009+288del
NM_001352514.1:c.2450+287_2450+288del	NP_001339443.1:n.2450+287_2450+288del
NM_001352515.1:c.2009+287_2009+288del	NP_001339444.1:n.2009+287_2009+288del
NM_001352515.2:c.2009+287_2009+288del	NP_001339444.1:n.2009+287_2009+288del
NM_001352516.1:c.2009+287_2009+288del	NP_001339445.1:n.2009+287_2009+288del
NM_001352516.2:c.2009+287_2009+288del	NP_001339445.1:n.2009+287_2009+288del
NM_001352517.1:c.2009+287_2009+288del	NP_001339446.1:n.2009+287_2009+288del
NM_001352518.1:c.2009+287_2009+288del	NP_001339447.1:n.2009+287_2009+288del
NM_001352518.2:c.2009+287_2009+288del	NP_001339447.1:n.2009+287_2009+288del
NR_148020.1:n.2717+287_2717+288del
NR_148020.2:n.2534+287_2534+288del
NR_148021.1:n.2691+287_2691+288del
ENST00000336648.8:c.2009+287_2009+288del	ENSP00000338387.3:n.2009+287_2009+288del
ENST00000399120.5:c.2009+287_2009+288del	ENSP00000382071.1:n.2009+287_2009+288del
ENST00000612277.4:c.2009+287_2009+288del	ENSP00000479939.1:n.2009+287_2009+288del
ENST00000674895.2:c.2009+287_2009+288del	ENSP00000502087.1:n.2009+287_2009+288del
ENST00000675057.1:c.*419+287_*419+288del	ENSP00000501832.1:n.*419+287_*419+288del
ENST00000675307.1:c.2009+287_2009+288del	ENSP00000501750.1:n.2009+287_2009+288del
XM_005260953.2:c.2450+287_2450+288del	XP_005261010.1:n.2450+287_2450+288del
XM_005260955.2:c.2009+287_2009+288del	XP_005261012.1:n.2009+287_2009+288del
XM_005260956.2:c.2009+287_2009+288del	XP_005261013.1:n.2009+287_2009+288del
XM_006723994.1:c.2009+287_2009+288del	XP_006724057.1:n.2009+287_2009+288del
XM_006723995.1:c.2009+287_2009+288del	XP_006724058.1:n.2009+287_2009+288del
XM_011529538.1:c.2009+287_2009+288del	XP_011527840.1:n.2009+287_2009+288del
XM_011529539.1:c.2009+287_2009+288del	XP_011527841.1:n.2009+287_2009+288del
XM_011529539.3:c.2009+287_2009+288del	XP_011527841.1:n.2009+287_2009+288del
XM_011529541.1:c.2009+287_2009+288del	XP_011527843.1:n.2009+287_2009+288del
XM_017028330.1:c.2009+287_2009+288del	XP_016883819.1:n.2009+287_2009+288del
XM_024452065.1:c.1838+287_1838+288del	XP_024307833.1:n.1838+287_1838+288del
XM_024452066.1:c.1838+287_1838+288del	XP_024307834.1:n.1838+287_1838+288del
XR_001754835.1:n.2676+287_2676+288del
XR_001754836.1:n.2290+287_2290+288del
XR_001754840.1:n.2500+287_2500+288del