Canonical Allele Identifier: CA2612221024

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390738-TGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390739_6390741del , CM000673.2:g.6390739_6390741del	GRCh38
NC_000011.9:g.6411969_6411971del , CM000673.1:g.6411969_6411971del	GRCh37
NC_000011.8:g.6368545_6368547del	NCBI36
NG_011780.1:g.5315_5317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.141_143del MANE Select	ENSP00000340409.4:p.Ala48del
ENST00000342245.8:c.141_143del	ENSP00000340409.4:p.Ala48del
ENST00000527275.5:c.141_143del	ENSP00000435350.1:p.Ala48del
ENST00000530395.1:c.-96+100_-96+102del	ENSP00000431479.1:n.-96+100_-96+102del
ENST00000531303.5:c.141_143del	ENSP00000432625.1:p.Ala48del
ENST00000533123.5:c.141_143del	ENSP00000435950.1:p.Ala48del
ENST00000533196.1:n.300_302del
ENST00000534405.5:c.141_143del	ENSP00000434353.1:p.Ala48del
NM_000543.4:c.141_143del	NP_000534.3:p.Ala48del
NM_001007593.2:c.141_143del	NP_001007594.2:p.Ala48del
XM_005253075.3:c.141_143del	XP_005253132.1:p.Ala48del
XM_011520303.1:c.141_143del	XP_011518605.1:p.Ala48del
XM_011520304.1:c.141_143del	XP_011518606.1:p.Ala48del
XR_930886.1:n.439_441del
NM_001318087.1:c.141_143del	NP_001305016.1:p.Ala48del
NM_001318088.1:c.-821_-819del	NP_001305017.1:n.-821_-819del
NM_001365135.1:c.141_143del	NP_001352064.1:p.Ala48del
NR_027400.2:n.326_328del
NR_134502.1:n.326_328del
XM_011520304.2:c.141_143del	XP_011518606.1:p.Ala48del
XR_001747940.2:n.266_268del
XR_002957158.1:n.266_268del
NM_000543.5:c.141_143del MANE Select	NP_000534.3:p.Ala48del
NM_001007593.3:c.141_143del	NP_001007594.2:p.Ala48del
NM_001318087.2:c.141_143del	NP_001305016.1:p.Ala48del
NM_001318088.2:c.-821_-819del	NP_001305017.1:n.-821_-819del
NM_001365135.2:c.141_143del	NP_001352064.1:p.Ala48del
NR_027400.3:n.266_268del
NR_134502.2:n.266_268del