Canonical Allele Identifier: CA1864052760

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032294_92032295delinsAT , CM000671.2:g.92032294_92032295delinsAT	GRCh38
NC_000009.11:g.94794576_94794577delinsAT , CM000671.1:g.94794576_94794577delinsAT	GRCh37
NC_000009.10:g.93834397_93834398delinsAT	NCBI36
NG_007950.1:g.88114_88115delinsAT , LRG_272:g.88114_88115delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*304_*305delinsAT	ENSP00000509268.1:n.*304_*305delinsAT
ENST00000686799.1:n.1916_1917delinsAT
ENST00000687427.1:c.*348_*349delinsAT	ENSP00000509426.1:n.*348_*349delinsAT
ENST00000687817.1:c.*3990_*3991delinsAT	ENSP00000508926.1:n.*3990_*3991delinsAT
ENST00000687972.1:c.*170_*171delinsAT	ENSP00000509208.1:n.*170_*171delinsAT
ENST00000689261.1:n.1499_1500delinsAT
ENST00000689401.1:c.*1842_*1843delinsAT	ENSP00000510251.1:n.*1842_*1843delinsAT
ENST00000690095.1:n.1980_1981delinsAT
ENST00000690139.1:c.*1293_*1294delinsAT	ENSP00000510483.1:n.*1293_*1294delinsAT
ENST00000692458.1:n.2230_2231delinsAT
ENST00000262554.7:c.*170_*171delinsAT MANE Select	ENSP00000262554.2:n.*170_*171delinsAT
ENST00000642671.1:c.1629+2515_1629+2516delinsAT	ENSP00000495764.1:n.1629+2515_1629+2516delinsAT
ENST00000643599.1:c.1396+2515_1396+2516delinsAT	ENSP00000494770.1:n.1396+2515_1396+2516delinsAT
ENST00000644140.1:c.*1333_*1334delinsAT	ENSP00000493933.1:n.*1333_*1334delinsAT
ENST00000646481.1:c.1260+2515_1260+2516delinsAT	ENSP00000496627.1:n.1260+2515_1260+2516delinsAT
ENST00000646534.1:c.*1395_*1396delinsAT	ENSP00000495388.1:n.*1395_*1396delinsAT
ENST00000262554.6:c.*170_*171delinsAT	ENSP00000262554.2:n.*170_*171delinsAT
NM_001281303.1:c.*18_*19delinsAT	NP_001268232.1:n.*18_*19delinsAT
NM_006415.3:c.*170_*171delinsAT	NP_006406.1:n.*170_*171delinsAT
XM_011518139.1:c.*170_*171delinsAT	XP_011516441.1:n.*170_*171delinsAT
XM_011518139.3:c.*170_*171delinsAT	XP_011516441.1:n.*170_*171delinsAT
XM_017014200.2:c.*170_*171delinsAT	XP_016869689.1:n.*170_*171delinsAT
XM_017014201.2:c.*170_*171delinsAT	XP_016869690.1:n.*170_*171delinsAT
XM_024447378.1:c.*170_*171delinsAT	XP_024303146.1:n.*170_*171delinsAT
XM_024447379.1:c.*170_*171delinsAT	XP_024303147.1:n.*170_*171delinsAT
XR_002956744.1:n.1742_1743delinsAT
NM_006415.4:c.*170_*171delinsAT MANE Select	NP_006406.1:n.*170_*171delinsAT
NM_001281303.2:c.*18_*19delinsAT	NP_001268232.1:n.*18_*19delinsAT
NM_001368272.1:c.*170_*171delinsAT	NP_001355201.1:n.*170_*171delinsAT
NM_001368273.1:c.*170_*171delinsAT	NP_001355202.1:n.*170_*171delinsAT