Canonical Allele Identifier: CA934779626

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847887353
• gnomAD v3: 11-6391038-CCAT-C
• gnomAD v4: 11-6391038-CCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391041_6391043del , CM000673.2:g.6391041_6391043del	GRCh38
NC_000011.9:g.6412271_6412273del , CM000673.1:g.6412271_6412273del	GRCh37
NC_000011.8:g.6368847_6368849del	NCBI36
NG_011780.1:g.5617_5619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+125_318+127del MANE Select	ENSP00000340409.4:n.318+125_318+127del
ENST00000342245.8:c.318+125_318+127del	ENSP00000340409.4:n.318+125_318+127del
ENST00000527275.5:c.318+125_318+127del	ENSP00000435350.1:n.318+125_318+127del
ENST00000530395.1:c.-96+402_-96+404del	ENSP00000431479.1:n.-96+402_-96+404del
ENST00000531303.5:c.318+125_318+127del	ENSP00000432625.1:n.318+125_318+127del
ENST00000533123.5:c.318+125_318+127del	ENSP00000435950.1:n.318+125_318+127del
ENST00000533196.1:n.374+228_374+230del
ENST00000534405.5:c.318+125_318+127del	ENSP00000434353.1:n.318+125_318+127del
NM_000543.4:c.318+125_318+127del	NP_000534.3:n.318+125_318+127del
NM_001007593.2:c.318+125_318+127del	NP_001007594.2:n.318+125_318+127del
XM_005253075.3:c.318+125_318+127del	XP_005253132.1:n.318+125_318+127del
XM_011520303.1:c.318+125_318+127del	XP_011518605.1:n.318+125_318+127del
XM_011520304.1:c.318+125_318+127del	XP_011518606.1:n.318+125_318+127del
XR_930886.1:n.616+125_616+127del
NM_001318087.1:c.318+125_318+127del	NP_001305016.1:n.318+125_318+127del
NM_001318088.1:c.-644+125_-644+127del	NP_001305017.1:n.-644+125_-644+127del
NM_001365135.1:c.318+125_318+127del	NP_001352064.1:n.318+125_318+127del
NR_027400.2:n.503+125_503+127del
NR_134502.1:n.503+125_503+127del
XM_011520304.2:c.318+125_318+127del	XP_011518606.1:n.318+125_318+127del
XR_001747940.2:n.443+125_443+127del
XR_002957158.1:n.443+125_443+127del
NM_000543.5:c.318+125_318+127del MANE Select	NP_000534.3:n.318+125_318+127del
NM_001007593.3:c.318+125_318+127del	NP_001007594.2:n.318+125_318+127del
NM_001318087.2:c.318+125_318+127del	NP_001305016.1:n.318+125_318+127del
NM_001318088.2:c.-644+125_-644+127del	NP_001305017.1:n.-644+125_-644+127del
NM_001365135.2:c.318+125_318+127del	NP_001352064.1:n.318+125_318+127del
NR_027400.3:n.443+125_443+127del
NR_134502.2:n.443+125_443+127del