Canonical Allele Identifier: CA2388233991

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36930043_36930051delinsCTAAACTCT , CM000683.2:g.36930043_36930051delinsCTAAACTCT	GRCh38
NC_000021.8:g.38302343_38302351delinsCTAAACTCT , CM000683.1:g.38302343_38302351delinsCTAAACTCT	GRCh37
NC_000021.7:g.37224213_37224221delinsCTAAACTCT	NCBI36
NG_016193.1:g.65186_65194delinsAGAGTTTAG
NG_016193.2:g.65344_65352delinsAGAGTTTAG

Transcript Alleles

HGVS	Amino-acid Change
NM_001352514.2:c.1620+200_1620+208delinsAGAGTTTAG MANE Select	NP_001339443.1:n.1620+200_1620+208delinsAGAGTTTAG
ENST00000674895.3:c.1620+200_1620+208delinsAGAGTTTAG MANE Select	ENSP00000502087.2:n.1620+200_1620+208delinsAGAGTTTAG
NM_000411.6:c.1179+200_1179+208delinsAGAGTTTAG	NP_000402.3:n.1179+200_1179+208delinsAGAGTTTAG
NM_000411.7:c.1179+200_1179+208delinsAGAGTTTAG	NP_000402.3:n.1179+200_1179+208delinsAGAGTTTAG
NM_000411.8:c.1179+200_1179+208delinsAGAGTTTAG	NP_000402.3:n.1179+200_1179+208delinsAGAGTTTAG
NM_001242784.1:c.1179+200_1179+208delinsAGAGTTTAG	NP_001229713.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001242784.2:c.1179+200_1179+208delinsAGAGTTTAG	NP_001229713.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001242784.3:c.1179+200_1179+208delinsAGAGTTTAG	NP_001229713.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001242785.1:c.1179+200_1179+208delinsAGAGTTTAG	NP_001229714.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001242785.2:c.1179+200_1179+208delinsAGAGTTTAG	NP_001229714.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001352514.1:c.1620+200_1620+208delinsAGAGTTTAG	NP_001339443.1:n.1620+200_1620+208delinsAGAGTTTAG
NM_001352515.1:c.1179+200_1179+208delinsAGAGTTTAG	NP_001339444.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001352515.2:c.1179+200_1179+208delinsAGAGTTTAG	NP_001339444.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001352516.1:c.1179+200_1179+208delinsAGAGTTTAG	NP_001339445.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001352516.2:c.1179+200_1179+208delinsAGAGTTTAG	NP_001339445.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001352517.1:c.1179+200_1179+208delinsAGAGTTTAG	NP_001339446.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001352518.1:c.1179+200_1179+208delinsAGAGTTTAG	NP_001339447.1:n.1179+200_1179+208delinsAGAGTTTAG
NM_001352518.2:c.1179+200_1179+208delinsAGAGTTTAG	NP_001339447.1:n.1179+200_1179+208delinsAGAGTTTAG
NR_148020.1:n.1662+200_1662+208delinsAGAGTTTAG
NR_148020.2:n.1479+200_1479+208delinsAGAGTTTAG
NR_148021.1:n.1636+200_1636+208delinsAGAGTTTAG
ENST00000336648.8:c.1179+200_1179+208delinsAGAGTTTAG	ENSP00000338387.3:n.1179+200_1179+208delinsAGAGTTTAG
ENST00000399120.5:c.1179+200_1179+208delinsAGAGTTTAG	ENSP00000382071.1:n.1179+200_1179+208delinsAGAGTTTAG
ENST00000482273.1:n.167+200_167+208delinsAGAGTTTAG
ENST00000612277.4:c.1179+200_1179+208delinsAGAGTTTAG	ENSP00000479939.1:n.1179+200_1179+208delinsAGAGTTTAG
ENST00000674895.2:c.1179+200_1179+208delinsAGAGTTTAG	ENSP00000502087.1:n.1179+200_1179+208delinsAGAGTTTAG
ENST00000675057.1:c.1179+200_1179+208delinsAGAGTTTAG	ENSP00000501832.1:n.1179+200_1179+208delinsAGAGTTTAG
ENST00000675307.1:c.1179+200_1179+208delinsAGAGTTTAG	ENSP00000501750.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_005260953.2:c.1620+200_1620+208delinsAGAGTTTAG	XP_005261010.1:n.1620+200_1620+208delinsAGAGTTTAG
XM_005260954.1:c.1620+200_1620+208delinsAGAGTTTAG	XP_005261011.1:n.1620+200_1620+208delinsAGAGTTTAG
XM_005260955.2:c.1179+200_1179+208delinsAGAGTTTAG	XP_005261012.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_005260956.2:c.1179+200_1179+208delinsAGAGTTTAG	XP_005261013.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_006723994.1:c.1179+200_1179+208delinsAGAGTTTAG	XP_006724057.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_006723995.1:c.1179+200_1179+208delinsAGAGTTTAG	XP_006724058.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_011529538.1:c.1179+200_1179+208delinsAGAGTTTAG	XP_011527840.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_011529539.1:c.1179+200_1179+208delinsAGAGTTTAG	XP_011527841.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_011529539.3:c.1179+200_1179+208delinsAGAGTTTAG	XP_011527841.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_011529540.1:c.1620+200_1620+208delinsAGAGTTTAG	XP_011527842.1:n.1620+200_1620+208delinsAGAGTTTAG
XM_011529540.2:c.1620+200_1620+208delinsAGAGTTTAG	XP_011527842.1:n.1620+200_1620+208delinsAGAGTTTAG
XM_011529541.1:c.1179+200_1179+208delinsAGAGTTTAG	XP_011527843.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_011529542.1:c.1620+200_1620+208delinsAGAGTTTAG	XP_011527844.1:n.1620+200_1620+208delinsAGAGTTTAG
XM_017028330.1:c.1179+200_1179+208delinsAGAGTTTAG	XP_016883819.1:n.1179+200_1179+208delinsAGAGTTTAG
XM_024452065.1:c.1008+200_1008+208delinsAGAGTTTAG	XP_024307833.1:n.1008+200_1008+208delinsAGAGTTTAG
XM_024452066.1:c.1008+200_1008+208delinsAGAGTTTAG	XP_024307834.1:n.1008+200_1008+208delinsAGAGTTTAG
XR_001754835.1:n.1621+200_1621+208delinsAGAGTTTAG
XR_001754836.1:n.1621+200_1621+208delinsAGAGTTTAG
XR_001754837.2:n.1621+200_1621+208delinsAGAGTTTAG
XR_001754840.1:n.1621+200_1621+208delinsAGAGTTTAG