Canonical Allele Identifier: CA2612221000

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390706-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390707_6390708del , CM000673.2:g.6390707_6390708del	GRCh38
NC_000011.9:g.6411937_6411938del , CM000673.1:g.6411937_6411938del	GRCh37
NC_000011.8:g.6368513_6368514del	NCBI36
NG_011780.1:g.5283_5284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.109_110del MANE Select	ENSP00000340409.4:p.Leu37GlyfsTer14
ENST00000342245.8:c.109_110del	ENSP00000340409.4:p.Leu37GlyfsTer14
ENST00000527275.5:c.109_110del	ENSP00000435350.1:p.Leu37GlyfsTer14
ENST00000530395.1:c.-96+68_-96+69del	ENSP00000431479.1:n.-96+68_-96+69del
ENST00000531303.5:c.109_110del	ENSP00000432625.1:p.Leu37GlyfsTer14
ENST00000533123.5:c.109_110del	ENSP00000435950.1:p.Leu37GlyfsTer14
ENST00000533196.1:n.268_269del
ENST00000534405.5:c.109_110del	ENSP00000434353.1:p.Leu37GlyfsTer14
NM_000543.4:c.109_110del	NP_000534.3:p.Leu37GlyfsTer14
NM_001007593.2:c.109_110del	NP_001007594.2:p.Leu37GlyfsTer14
XM_005253075.3:c.109_110del	XP_005253132.1:p.Leu37GlyfsTer14
XM_011520303.1:c.109_110del	XP_011518605.1:p.Leu37GlyfsTer14
XM_011520304.1:c.109_110del	XP_011518606.1:p.Leu37GlyfsTer14
XR_930886.1:n.407_408del
NM_001318087.1:c.109_110del	NP_001305016.1:p.Leu37GlyfsTer14
NM_001318088.1:c.-853_-852del	NP_001305017.1:n.-853_-852del
NM_001365135.1:c.109_110del	NP_001352064.1:p.Leu37GlyfsTer14
NR_027400.2:n.294_295del
NR_134502.1:n.294_295del
XM_011520304.2:c.109_110del	XP_011518606.1:p.Leu37GlyfsTer14
XR_001747940.2:n.234_235del
XR_002957158.1:n.234_235del
NM_000543.5:c.109_110del MANE Select	NP_000534.3:p.Leu37GlyfsTer14
NM_001007593.3:c.109_110del	NP_001007594.2:p.Leu37GlyfsTer14
NM_001318087.2:c.109_110del	NP_001305016.1:p.Leu37GlyfsTer14
NM_001318088.2:c.-853_-852del	NP_001305017.1:n.-853_-852del
NM_001365135.2:c.109_110del	NP_001352064.1:p.Leu37GlyfsTer14
NR_027400.3:n.234_235del
NR_134502.2:n.234_235del