Canonical Allele Identifier: CA645515752
Community Standard Title: NM_000069.3(CACNA1S):c.5571_5572delinsTT (p.Leu1858Phe)
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201039881_201039882delinsAA , CM000663.2:g.201039881_201039882delinsAA GRCh38
NC_000001.10:g.201009009_201009010delinsAA , CM000663.1:g.201009009_201009010delinsAA GRCh37
NC_000001.9:g.199275632_199275633delinsAA NCBI36
NG_009816.1:g.77685_77686delinsTT
NG_009816.2:g.77685_77686delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000069.3:c.5571_5572delinsTT MANE Select NP_000060.2:p.Leu1858Phe
ENST00000362061.4:c.5571_5572delinsTT MANE Select ENSP00000355192.3:p.Leu1858Phe
NM_000069.2:c.5571_5572delinsTT NP_000060.2:p.Leu1858Phe
ENST00000362061.3:c.5571_5572delinsTT ENSP00000355192.3:p.Leu1858Phe
ENST00000367338.7:c.5514_5515delinsTT ENSP00000356307.3:p.Leu1839Phe
ENST00000679417.1:c.*4734_*4735delinsTT ENSP00000506706.1:n.*4734_*4735delinsTT
ENST00000680059.1:c.*3089_*3090delinsTT ENSP00000504944.1:n.*3089_*3090delinsTT
ENST00000681078.1:c.*1346_*1347delinsTT ENSP00000506645.1:n.*1346_*1347delinsTT
ENST00000681190.1:c.*1753_*1754delinsTT ENSP00000506428.1:n.*1753_*1754delinsTT
ENST00000681874.1:c.5511_5512delinsTT ENSP00000505162.1:p.Leu1838Phe
XM_005245478.2:c.5514_5515delinsTT XP_005245535.1:p.Leu1839Phe
XM_005245478.3:c.5514_5515delinsTT XP_005245535.1:p.Leu1839Phe
XR_001738364.1:n.1652-1974_1652-1973delinsAA
XR_001738365.1:n.1562-1974_1562-1973delinsAA
XR_001738366.1:n.1355-1974_1355-1973delinsAA
XR_001738367.1:n.1568-1974_1568-1973delinsAA
XR_001738368.1:n.1464-1974_1464-1973delinsAA
XR_001738369.1:n.1240-1974_1240-1973delinsAA
XR_001738370.1:n.1192-1974_1192-1973delinsAA
XR_001738371.1:n.586-1974_586-1973delinsAA
XR_001738372.1:n.1058-1974_1058-1973delinsAA
XR_241170.3:n.1465-1974_1465-1973delinsAA
XR_922405.1:n.2003-1974_2003-1973delinsAA
XR_922405.3:n.2113-1974_2113-1973delinsAA
XR_922406.1:n.2281-1974_2281-1973delinsAA
XR_922407.1:n.2191-1974_2191-1973delinsAA
XR_922407.3:n.2301-1974_2301-1973delinsAA
XR_922408.1:n.1369-1974_1369-1973delinsAA
XR_922408.2:n.1374-1974_1374-1973delinsAA
XR_922409.1:n.1984-1974_1984-1973delinsAA
XR_922410.1:n.1391-1974_1391-1973delinsAA
XR_922410.2:n.1383-1974_1383-1973delinsAA
XR_922411.1:n.1983-1974_1983-1973delinsAA
XR_922412.1:n.2197-1974_2197-1973delinsAA
XR_922413.1:n.2093-1974_2093-1973delinsAA
XR_922414.1:n.1300-1974_1300-1973delinsAA
XR_922414.2:n.1292-1974_1292-1973delinsAA
XR_922415.1:n.1869-1974_1869-1973delinsAA
XR_922416.1:n.1309-1974_1309-1973delinsAA
XR_922416.2:n.1301-1974_1301-1973delinsAA
XR_922417.1:n.1887-1974_1887-1973delinsAA
XR_922417.3:n.1997-1974_1997-1973delinsAA
XR_922418.1:n.1821-1974_1821-1973delinsAA
XR_922419.1:n.1215-1974_1215-1973delinsAA
XR_922420.1:n.1687-1974_1687-1973delinsAA