Canonical Allele Identifier: CA1864080890
Gene: SPTLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92067952_92067954delinsTAA , CM000671.2:g.92067952_92067954delinsTAA GRCh38
NC_000009.11:g.94830234_94830236delinsTAA , CM000671.1:g.94830234_94830236delinsTAA GRCh37
NC_000009.10:g.93870055_93870057delinsTAA NCBI36
NG_007950.1:g.52455_52457delinsTTA , LRG_272:g.52455_52457delinsTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000482632.6:n.970+12_970+14delinsTTA
ENST00000686600.1:c.560+12_560+14delinsTTA ENSP00000509268.1:n.560+12_560+14delinsTT...
ENST00000686799.1:n.657+12_657+14delinsTTA
ENST00000687427.1:c.560+12_560+14delinsTTA ENSP00000509426.1:n.560+12_560+14delinsTT...
ENST00000687817.1:c.*363+12_*363+14delinsTTA ENSP00000508926.1:n.*363+12_*363+14delins...
ENST00000687972.1:c.620+12_620+14delinsTTA ENSP00000509208.1:n.620+12_620+14delinsTT...
ENST00000689261.1:n.467+12_467+14delinsTTA
ENST00000689401.1:c.*810+12_*810+14delinsTTA ENSP00000510251.1:n.*810+12_*810+14delins...
ENST00000689423.1:c.*810+12_*810+14delinsTTA ENSP00000508519.1:n.*810+12_*810+14delins...
ENST00000690095.1:n.888+12_888+14delinsTTA
ENST00000690139.1:c.*261+12_*261+14delinsTTA ENSP00000510483.1:n.*261+12_*261+14delins...
ENST00000692458.1:n.583+12_583+14delinsTTA
ENST00000693147.1:c.*576+12_*576+14delinsTTA ENSP00000510358.1:n.*576+12_*576+14delins...
ENST00000262554.7:c.560+12_560+14delinsTTA MANE Select ENSP00000262554.2:n.560+12_560+14delinsTT...
ENST00000642671.1:c.605+12_605+14delinsTTA ENSP00000495764.1:n.605+12_605+14delinsTT...
ENST00000643599.1:c.432+12_432+14delinsTTA ENSP00000494770.1:n.432+12_432+14delinsTT...
ENST00000644140.1:c.*301+12_*301+14delinsTTA ENSP00000493933.1:n.*301+12_*301+14delins...
ENST00000646481.1:c.432+12_432+14delinsTTA ENSP00000496627.1:n.432+12_432+14delinsTT...
ENST00000646534.1:c.*363+12_*363+14delinsTTA ENSP00000495388.1:n.*363+12_*363+14delins...
ENST00000262554.6:c.560+12_560+14delinsTTA ENSP00000262554.2:n.560+12_560+14delinsTT...
ENST00000482632.5:n.707+12_707+14delinsTTA
NM_001281303.1:c.560+12_560+14delinsTTA NP_001268232.1:n.560+12_560+14delinsTTA
NM_006415.3:c.560+12_560+14delinsTTA NP_006406.1:n.560+12_560+14delinsTTA
XM_011518138.1:c.560+12_560+14delinsTTA XP_011516440.1:n.560+12_560+14delinsTTA
XM_011518139.1:c.95+12_95+14delinsTTA XP_011516441.1:n.95+12_95+14delinsTTA
XM_011518138.2:c.560+12_560+14delinsTTA XP_011516440.1:n.560+12_560+14delinsTTA
XM_011518139.3:c.95+12_95+14delinsTTA XP_011516441.1:n.95+12_95+14delinsTTA
XM_017014200.2:c.194+12_194+14delinsTTA XP_016869689.1:n.194+12_194+14delinsTTA
XM_017014201.2:c.194+12_194+14delinsTTA XP_016869690.1:n.194+12_194+14delinsTTA
XM_024447378.1:c.95+12_95+14delinsTTA XP_024303146.1:n.95+12_95+14delinsTTA
XM_024447379.1:c.95+12_95+14delinsTTA XP_024303147.1:n.95+12_95+14delinsTTA
XR_002956744.1:n.710+12_710+14delinsTTA
NM_006415.4:c.560+12_560+14delinsTTA MANE Select NP_006406.1:n.560+12_560+14delinsTTA
NM_001281303.2:c.560+12_560+14delinsTTA NP_001268232.1:n.560+12_560+14delinsTTA
NM_001368272.1:c.194+12_194+14delinsTTA NP_001355201.1:n.194+12_194+14delinsTTA
NM_001368273.1:c.95+12_95+14delinsTTA NP_001355202.1:n.95+12_95+14delinsTTA