Canonical Allele Identifier: CA2580062478
Gene: LYST HGNC NCBI

Linked Data

ClinVar Variation Id: 1714160
ClinVar RCV Id: RCV002297143

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235806740_235806741delinsAT , CM000663.2:g.235806740_235806741delinsAT GRCh38
NC_000001.10:g.235970040_235970041delinsAT , CM000663.1:g.235970040_235970041delinsAT GRCh37
NC_000001.9:g.234036663_234036664delinsAT NCBI36
NG_007397.1:g.81900_81901delinsAT , LRG_143:g.81900_81901delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697178.1:c.2395_2396delinsAT ENSP00000513163.1:p.Gly799Ile
ENST00000697242.1:c.1798_1799delinsAT ENSP00000513207.1:p.Gly600Ile
ENST00000389793.7:c.2395_2396delinsAT MANE Select ENSP00000374443.2:p.Gly799Ile
ENST00000389793.6:c.2395_2396delinsAT ENSP00000374443.2:p.Gly799Ile
ENST00000389794.7:c.2395_2396delinsAT ENSP00000374444.4:p.Gly799Ile
ENST00000465349.5:n.2946_2947delinsAT
ENST00000489585.5:n.2946_2947delinsAT
NM_000081.3:c.2395_2396delinsAT , LRG_143t1:c.2395_2396delinsAT NP_000072.2:p.Gly799Ile
NM_001301365.1:c.2395_2396delinsAT , LRG_143t2:c.2395_2396delinsAT NP_001288294.1:p.Gly799Ile
XM_011544031.1:c.2395_2396delinsAT XP_011542333.1:p.Gly799Ile
XM_011544032.1:c.2395_2396delinsAT XP_011542334.1:p.Gly799Ile
XM_011544033.1:c.2395_2396delinsAT XP_011542335.1:p.Gly799Ile
XM_011544034.1:c.2395_2396delinsAT XP_011542336.1:p.Gly799Ile
XM_011544035.1:c.2395_2396delinsAT XP_011542337.1:p.Gly799Ile
XM_011544036.1:c.58_59delinsAT XP_011542338.1:p.Gly20Ile
XM_011544037.1:c.2395_2396delinsAT XP_011542339.1:p.Gly799Ile
XM_011544038.1:c.2395_2396delinsAT XP_011542340.1:p.Gly799Ile
XM_011544039.1:c.2395_2396delinsAT XP_011542341.1:p.Gly799Ile
XM_011544040.1:c.2395_2396delinsAT XP_011542342.1:p.Gly799Ile
XM_011544033.2:c.2395_2396delinsAT XP_011542335.1:p.Gly799Ile
XM_011544035.2:c.2395_2396delinsAT XP_011542337.1:p.Gly799Ile
XM_011544036.2:c.58_59delinsAT XP_011542338.1:p.Gly20Ile
XM_011544037.2:c.2395_2396delinsAT XP_011542339.1:p.Gly799Ile
XM_011544039.2:c.2395_2396delinsAT XP_011542341.1:p.Gly799Ile
XM_017000150.1:c.2395_2396delinsAT XP_016855639.1:p.Gly799Ile
XM_017000151.1:c.2395_2396delinsAT XP_016855640.1:p.Gly799Ile
XR_001736946.2:n.2577_2578delinsAT
XR_001736947.1:n.2577_2578delinsAT
XR_001736948.1:n.2577_2578delinsAT
XR_002959252.1:n.2577_2578delinsAT
NM_000081.4:c.2395_2396delinsAT MANE Select NP_000072.2:p.Gly799Ile