Canonical Allele Identifier: CA2388234074

Gene: HLCS

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36930241_36930244delinsCACA , CM000683.2:g.36930241_36930244delinsCACA	GRCh38
NC_000021.8:g.38302541_38302544delinsCACA , CM000683.1:g.38302541_38302544delinsCACA	GRCh37
NC_000021.7:g.37224411_37224414delinsCACA	NCBI36
NG_016193.1:g.64993_64996delinsTGTG
NG_016193.2:g.65151_65154delinsTGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000674895.3:c.1620+7_1620+10delinsTGTG MANE Select	ENSP00000502087.2:n.1620+7_1620+10delinsT...
ENST00000674895.2:c.1179+7_1179+10delinsTGTG	ENSP00000502087.1:n.1179+7_1179+10delinsT...
ENST00000675057.1:c.1179+7_1179+10delinsTGTG	ENSP00000501832.1:n.1179+7_1179+10delinsT...
ENST00000675307.1:c.1179+7_1179+10delinsTGTG	ENSP00000501750.1:n.1179+7_1179+10delinsT...
ENST00000336648.8:c.1179+7_1179+10delinsTGTG	ENSP00000338387.3:n.1179+7_1179+10delinsT...
ENST00000399120.5:c.1179+7_1179+10delinsTGTG	ENSP00000382071.1:n.1179+7_1179+10delinsT...
ENST00000482273.1:n.167+7_167+10delinsTGTG
ENST00000612277.4:c.1179+7_1179+10delinsTGTG	ENSP00000479939.1:n.1179+7_1179+10delinsT...
NM_000411.6:c.1179+7_1179+10delinsTGTG	NP_000402.3:n.1179+7_1179+10delinsTGTG
NM_001242784.1:c.1179+7_1179+10delinsTGTG	NP_001229713.1:n.1179+7_1179+10delinsTGTG...
NM_001242785.1:c.1179+7_1179+10delinsTGTG	NP_001229714.1:n.1179+7_1179+10delinsTGTG...
XM_005260953.2:c.1620+7_1620+10delinsTGTG	XP_005261010.1:n.1620+7_1620+10delinsTGTG...
XM_005260954.1:c.1620+7_1620+10delinsTGTG	XP_005261011.1:n.1620+7_1620+10delinsTGTG...
XM_005260955.2:c.1179+7_1179+10delinsTGTG	XP_005261012.1:n.1179+7_1179+10delinsTGTG...
XM_005260956.2:c.1179+7_1179+10delinsTGTG	XP_005261013.1:n.1179+7_1179+10delinsTGTG...
XM_006723994.1:c.1179+7_1179+10delinsTGTG	XP_006724057.1:n.1179+7_1179+10delinsTGTG...
XM_006723995.1:c.1179+7_1179+10delinsTGTG	XP_006724058.1:n.1179+7_1179+10delinsTGTG...
XM_011529538.1:c.1179+7_1179+10delinsTGTG	XP_011527840.1:n.1179+7_1179+10delinsTGTG...
XM_011529539.1:c.1179+7_1179+10delinsTGTG	XP_011527841.1:n.1179+7_1179+10delinsTGTG...
XM_011529540.1:c.1620+7_1620+10delinsTGTG	XP_011527842.1:n.1620+7_1620+10delinsTGTG...
XM_011529541.1:c.1179+7_1179+10delinsTGTG	XP_011527843.1:n.1179+7_1179+10delinsTGTG...
XM_011529542.1:c.1620+7_1620+10delinsTGTG	XP_011527844.1:n.1620+7_1620+10delinsTGTG...
NM_000411.7:c.1179+7_1179+10delinsTGTG	NP_000402.3:n.1179+7_1179+10delinsTGTG
NM_001242784.2:c.1179+7_1179+10delinsTGTG	NP_001229713.1:n.1179+7_1179+10delinsTGTG...
NM_001242785.2:c.1179+7_1179+10delinsTGTG	NP_001229714.1:n.1179+7_1179+10delinsTGTG...
NM_001352514.1:c.1620+7_1620+10delinsTGTG	NP_001339443.1:n.1620+7_1620+10delinsTGTG...
NM_001352515.1:c.1179+7_1179+10delinsTGTG	NP_001339444.1:n.1179+7_1179+10delinsTGTG...
NM_001352516.1:c.1179+7_1179+10delinsTGTG	NP_001339445.1:n.1179+7_1179+10delinsTGTG...
NM_001352517.1:c.1179+7_1179+10delinsTGTG	NP_001339446.1:n.1179+7_1179+10delinsTGTG...
NM_001352518.1:c.1179+7_1179+10delinsTGTG	NP_001339447.1:n.1179+7_1179+10delinsTGTG...
NR_148020.1:n.1662+7_1662+10delinsTGTG
NR_148021.1:n.1636+7_1636+10delinsTGTG
XM_011529539.3:c.1179+7_1179+10delinsTGTG	XP_011527841.1:n.1179+7_1179+10delinsTGTG...
XM_011529540.2:c.1620+7_1620+10delinsTGTG	XP_011527842.1:n.1620+7_1620+10delinsTGTG...
XM_017028330.1:c.1179+7_1179+10delinsTGTG	XP_016883819.1:n.1179+7_1179+10delinsTGTG...
XM_024452065.1:c.1008+7_1008+10delinsTGTG	XP_024307833.1:n.1008+7_1008+10delinsTGTG...
XM_024452066.1:c.1008+7_1008+10delinsTGTG	XP_024307834.1:n.1008+7_1008+10delinsTGTG...
XR_001754835.1:n.1621+7_1621+10delinsTGTG
XR_001754836.1:n.1621+7_1621+10delinsTGTG
XR_001754837.2:n.1621+7_1621+10delinsTGTG
XR_001754840.1:n.1621+7_1621+10delinsTGTG
NM_000411.8:c.1179+7_1179+10delinsTGTG	NP_000402.3:n.1179+7_1179+10delinsTGTG
NM_001242784.3:c.1179+7_1179+10delinsTGTG	NP_001229713.1:n.1179+7_1179+10delinsTGTG...
NM_001352514.2:c.1620+7_1620+10delinsTGTG MANE Select	NP_001339443.1:n.1620+7_1620+10delinsTGTG...
NM_001352515.2:c.1179+7_1179+10delinsTGTG	NP_001339444.1:n.1179+7_1179+10delinsTGTG...
NM_001352516.2:c.1179+7_1179+10delinsTGTG	NP_001339445.1:n.1179+7_1179+10delinsTGTG...
NR_148020.2:n.1479+7_1479+10delinsTGTG
NM_001352518.2:c.1179+7_1179+10delinsTGTG	NP_001339447.1:n.1179+7_1179+10delinsTGTG...