Canonical Allele Identifier: CA749053502

Gene: HLCS

Linked Data

• dbSNP Id: rs1387521410
• MyVariant Identifiers: chr21:g.38139150_38139153del (hg19) ; chr21:g.36766849_36766852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36766849_36766852del , CM000683.2:g.36766849_36766852del	GRCh38
NC_000021.8:g.38139150_38139153del , CM000683.1:g.38139150_38139153del	GRCh37
NC_000021.7:g.37061020_37061023del	NCBI36
NG_016193.1:g.228384_228387del
NG_016193.2:g.228543_228546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.1960+366_1960+369del MANE Select	ENSP00000502087.2:n.1960+366_1960+369del
ENST00000674895.2:c.1519+366_1519+369del	ENSP00000502087.1:n.1519+366_1519+369del
ENST00000675057.1:c.1519+366_1519+369del	ENSP00000501832.1:n.1519+366_1519+369del
ENST00000675307.1:c.1519+366_1519+369del	ENSP00000501750.1:n.1519+366_1519+369del
ENST00000336648.8:c.1519+366_1519+369del	ENSP00000338387.3:n.1519+366_1519+369del
ENST00000399120.5:c.1519+366_1519+369del	ENSP00000382071.1:n.1519+366_1519+369del
ENST00000612277.4:c.1519+366_1519+369del	ENSP00000479939.1:n.1519+366_1519+369del
NM_000411.6:c.1519+366_1519+369del	NP_000402.3:n.1519+366_1519+369del
NM_001242784.1:c.1519+366_1519+369del	NP_001229713.1:n.1519+366_1519+369del
NM_001242785.1:c.1519+366_1519+369del	NP_001229714.1:n.1519+366_1519+369del
XM_005260953.2:c.1960+366_1960+369del	XP_005261010.1:n.1960+366_1960+369del
XM_005260954.1:c.1960+366_1960+369del	XP_005261011.1:n.1960+366_1960+369del
XM_005260955.2:c.1519+366_1519+369del	XP_005261012.1:n.1519+366_1519+369del
XM_005260956.2:c.1519+366_1519+369del	XP_005261013.1:n.1519+366_1519+369del
XM_006723994.1:c.1519+366_1519+369del	XP_006724057.1:n.1519+366_1519+369del
XM_006723995.1:c.1519+366_1519+369del	XP_006724058.1:n.1519+366_1519+369del
XM_011529538.1:c.1519+366_1519+369del	XP_011527840.1:n.1519+366_1519+369del
XM_011529539.1:c.1519+366_1519+369del	XP_011527841.1:n.1519+366_1519+369del
XM_011529541.1:c.1519+366_1519+369del	XP_011527843.1:n.1519+366_1519+369del
NM_000411.7:c.1519+366_1519+369del	NP_000402.3:n.1519+366_1519+369del
NM_001242784.2:c.1519+366_1519+369del	NP_001229713.1:n.1519+366_1519+369del
NM_001242785.2:c.1519+366_1519+369del	NP_001229714.1:n.1519+366_1519+369del
NM_001352514.1:c.1960+366_1960+369del	NP_001339443.1:n.1960+366_1960+369del
NM_001352515.1:c.1519+366_1519+369del	NP_001339444.1:n.1519+366_1519+369del
NM_001352516.1:c.1519+366_1519+369del	NP_001339445.1:n.1519+366_1519+369del
NM_001352517.1:c.1519+366_1519+369del	NP_001339446.1:n.1519+366_1519+369del
NM_001352518.1:c.1519+366_1519+369del	NP_001339447.1:n.1519+366_1519+369del
NR_148020.1:n.2002+366_2002+369del
NR_148021.1:n.1976+366_1976+369del
XM_011529539.3:c.1519+366_1519+369del	XP_011527841.1:n.1519+366_1519+369del
XM_017028330.1:c.1519+366_1519+369del	XP_016883819.1:n.1519+366_1519+369del
XM_024452065.1:c.1348+366_1348+369del	XP_024307833.1:n.1348+366_1348+369del
XM_024452066.1:c.1348+366_1348+369del	XP_024307834.1:n.1348+366_1348+369del
XR_001754835.1:n.1961+366_1961+369del
XR_001754836.1:n.1961+366_1961+369del
XR_001754837.2:n.1961+366_1961+369del
XR_001754840.1:n.2010+366_2010+369del
NM_000411.8:c.1519+366_1519+369del	NP_000402.3:n.1519+366_1519+369del
NM_001242784.3:c.1519+366_1519+369del	NP_001229713.1:n.1519+366_1519+369del
NM_001352514.2:c.1960+366_1960+369del MANE Select	NP_001339443.1:n.1960+366_1960+369del
NM_001352515.2:c.1519+366_1519+369del	NP_001339444.1:n.1519+366_1519+369del
NM_001352516.2:c.1519+366_1519+369del	NP_001339445.1:n.1519+366_1519+369del
NR_148020.2:n.1819+366_1819+369del
NM_001352518.2:c.1519+366_1519+369del	NP_001339447.1:n.1519+366_1519+369del