Canonical Allele Identifier: CA2690639980

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92067967-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067972del , CM000671.2:g.92067972del	GRCh38
NC_000009.11:g.94830254del , CM000671.1:g.94830254del	GRCh37
NC_000009.10:g.93870075del	NCBI36
NG_007950.1:g.52441del , LRG_272:g.52441del

Transcript Alleles

HGVS	Amino-acid change
ENST00000482632.6:n.968del
ENST00000686600.1:c.558del	ENSP00000509268.1:p.Phe186LeufsTer2
ENST00000686799.1:n.655del
ENST00000687427.1:c.558del	ENSP00000509426.1:p.Phe186LeufsTer2
ENST00000687817.1:c.*361del	ENSP00000508926.1:n.*361del
ENST00000687972.1:c.618del	ENSP00000509208.1:p.Phe206LeufsTer2
ENST00000689261.1:n.465del
ENST00000689401.1:c.*808del	ENSP00000510251.1:n.*808del
ENST00000689423.1:c.*808del	ENSP00000508519.1:n.*808del
ENST00000690095.1:n.886del
ENST00000690139.1:c.*259del	ENSP00000510483.1:n.*259del
ENST00000692458.1:n.581del
ENST00000693147.1:c.*574del	ENSP00000510358.1:n.*574del
ENST00000262554.7:c.558del MANE Select	ENSP00000262554.2:p.Phe186LeufsTer2
ENST00000642671.1:c.603del	ENSP00000495764.1:n.603del
ENST00000643599.1:c.430del	ENSP00000494770.1:n.430del
ENST00000644140.1:c.*299del	ENSP00000493933.1:n.*299del
ENST00000646481.1:c.430del	ENSP00000496627.1:n.430del
ENST00000646534.1:c.*361del	ENSP00000495388.1:n.*361del
ENST00000262554.6:c.558del	ENSP00000262554.2:p.Phe186LeufsTer2
ENST00000482632.5:n.705del
NM_001281303.1:c.558del	NP_001268232.1:p.Phe186LeufsTer2
NM_006415.3:c.558del	NP_006406.1:p.Phe186LeufsTer2
XM_011518138.1:c.558del	XP_011516440.1:p.Phe186LeufsTer2
XM_011518139.1:c.93del	XP_011516441.1:p.Phe31LeufsTer2
XM_011518138.2:c.558del	XP_011516440.1:p.Phe186LeufsTer2
XM_011518139.3:c.93del	XP_011516441.1:p.Phe31LeufsTer2
XM_017014200.2:c.192del	XP_016869689.1:p.Phe64LeufsTer2
XM_017014201.2:c.192del	XP_016869690.1:p.Phe64LeufsTer2
XM_024447378.1:c.93del	XP_024303146.1:p.Phe31LeufsTer2
XM_024447379.1:c.93del	XP_024303147.1:p.Phe31LeufsTer2
XR_002956744.1:n.708del
NM_006415.4:c.558del MANE Select	NP_006406.1:p.Phe186LeufsTer2
NM_001281303.2:c.558del	NP_001268232.1:p.Phe186LeufsTer2
NM_001368272.1:c.192del	NP_001355201.1:p.Phe64LeufsTer2
NM_001368273.1:c.93del	NP_001355202.1:p.Phe31LeufsTer2