Canonical Allele Identifier: CA2612222372

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392140-GCCCTGCGCACCCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392141_6392155del , CM000673.2:g.6392141_6392155del	GRCh38
NC_000011.9:g.6413371_6413385del , CM000673.1:g.6413371_6413385del	GRCh37
NC_000011.8:g.6369947_6369961del	NCBI36
NG_011780.1:g.6717_6731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1076_1090del MANE Select	ENSP00000340409.4:p.Ala359_Arg364delinsGly
ENST00000342245.8:c.1076_1090del	ENSP00000340409.4:p.Ala359_Arg364delinsGly
ENST00000526280.1:c.265_279del
ENST00000527275.5:c.1073_1087del	ENSP00000435350.1:p.Ala358_Arg363delinsGly
ENST00000531303.5:c.438+638_438+652del	ENSP00000432625.1:n.438+638_438+652del
ENST00000533123.5:c.1076_1090del	ENSP00000435950.1:p.Ala359_Arg364delinsGly
ENST00000534405.5:c.1076_1090del	ENSP00000434353.1:p.Ala359_Arg364delinsGly
NM_000543.4:c.1076_1090del	NP_000534.3:p.Ala359_Arg364delinsGly
NM_001007593.2:c.1073_1087del	NP_001007594.2:p.Ala358_Arg363delinsGly
XM_005253075.3:c.1076_1090del	XP_005253132.1:p.Ala359_Arg364delinsGly
XM_011520303.1:c.1076_1090del	XP_011518605.1:p.Ala359_Arg364delinsGly
XM_011520304.1:c.1076_1090del	XP_011518606.1:p.Ala359_Arg364delinsGly
XR_930886.1:n.1374_1388del
NM_001318087.1:c.1076_1090del	NP_001305016.1:p.Ala359_Arg364delinsGly
NM_001318088.1:c.115_129del	NP_001305017.1:p.Pro39_Ser43del
NM_001365135.1:c.1076_1090del	NP_001352064.1:p.Ala359_Arg364delinsGly
NR_027400.2:n.1261_1275del
NR_134502.1:n.623+638_623+652del
XM_011520304.2:c.1076_1090del	XP_011518606.1:p.Ala359_Arg364delinsGly
XR_001747940.2:n.1201_1215del
XR_002957158.1:n.1201_1215del
NM_000543.5:c.1076_1090del MANE Select	NP_000534.3:p.Ala359_Arg364delinsGly
NM_001007593.3:c.1073_1087del	NP_001007594.2:p.Ala358_Arg363delinsGly
NM_001318087.2:c.1076_1090del	NP_001305016.1:p.Ala359_Arg364delinsGly
NM_001318088.2:c.115_129del	NP_001305017.1:p.Pro39_Ser43del
NM_001365135.2:c.1076_1090del	NP_001352064.1:p.Ala359_Arg364delinsGly
NR_027400.3:n.1201_1215del
NR_134502.2:n.563+638_563+652del