Canonical Allele Identifier: CA2690637384

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92032379-CTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032382_92032385del , CM000671.2:g.92032382_92032385del	GRCh38
NC_000009.11:g.94794664_94794667del , CM000671.1:g.94794664_94794667del	GRCh37
NC_000009.10:g.93834485_93834488del	NCBI36
NG_007950.1:g.88026_88029del , LRG_272:g.88026_88029del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*216_*219del	ENSP00000509268.1:n.*216_*219del
ENST00000686799.1:n.1828_1831del
ENST00000687427.1:c.*260_*263del	ENSP00000509426.1:n.*260_*263del
ENST00000687817.1:c.*3902_*3905del	ENSP00000508926.1:n.*3902_*3905del
ENST00000687972.1:c.*82_*85del	ENSP00000509208.1:n.*82_*85del
ENST00000689261.1:n.1411_1414del
ENST00000689401.1:c.*1754_*1757del	ENSP00000510251.1:n.*1754_*1757del
ENST00000690095.1:n.1892_1895del
ENST00000690139.1:c.*1205_*1208del	ENSP00000510483.1:n.*1205_*1208del
ENST00000692458.1:n.2142_2145del
ENST00000262554.7:c.*82_*85del MANE Select	ENSP00000262554.2:n.*82_*85del
ENST00000642671.1:c.1629+2427_1629+2430del	ENSP00000495764.1:n.1629+2427_1629+2430del
ENST00000643599.1:c.1396+2427_1396+2430del	ENSP00000494770.1:n.1396+2427_1396+2430del
ENST00000644140.1:c.*1245_*1248del	ENSP00000493933.1:n.*1245_*1248del
ENST00000646481.1:c.1260+2427_1260+2430del	ENSP00000496627.1:n.1260+2427_1260+2430del
ENST00000646534.1:c.*1307_*1310del	ENSP00000495388.1:n.*1307_*1310del
ENST00000262554.6:c.*82_*85del	ENSP00000262554.2:n.*82_*85del
ENST00000469778.1:n.461_464del
NM_001281303.1:c.1472_1475del	NP_001268232.1:p.Lys491ArgfsTer?
NM_006415.3:c.*82_*85del	NP_006406.1:n.*82_*85del
XM_011518139.1:c.*82_*85del	XP_011516441.1:n.*82_*85del
XM_011518139.3:c.*82_*85del	XP_011516441.1:n.*82_*85del
XM_017014200.2:c.*82_*85del	XP_016869689.1:n.*82_*85del
XM_017014201.2:c.*82_*85del	XP_016869690.1:n.*82_*85del
XM_024447378.1:c.*82_*85del	XP_024303146.1:n.*82_*85del
XM_024447379.1:c.*82_*85del	XP_024303147.1:n.*82_*85del
XR_002956744.1:n.1654_1657del
NM_006415.4:c.*82_*85del MANE Select	NP_006406.1:n.*82_*85del
NM_001281303.2:c.1472_1475del	NP_001268232.1:p.Lys491ArgfsTer?
NM_001368272.1:c.*82_*85del	NP_001355201.1:n.*82_*85del
NM_001368273.1:c.*82_*85del	NP_001355202.1:n.*82_*85del