Canonical Allele Identifier: CA2612221008

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390712-G-GCTGGCGCTGGCGCTGGCGCTGGCGCTGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390716_6390745dup , CM000673.2:g.6390716_6390745dup	GRCh38
NC_000011.9:g.6411946_6411975dup , CM000673.1:g.6411946_6411975dup	GRCh37
NC_000011.8:g.6368522_6368551dup	NCBI36
NG_011780.1:g.5292_5321dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.118_147dup MANE Select	ENSP00000340409.4:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000342245.8:c.118_147dup	ENSP00000340409.4:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000527275.5:c.118_147dup	ENSP00000435350.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000530395.1:c.-96+77_-96+106dup	ENSP00000431479.1:n.-96+77_-96+106dup
ENST00000531303.5:c.118_147dup	ENSP00000432625.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000533123.5:c.118_147dup	ENSP00000435950.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAla...
ENST00000533196.1:n.277_306dup
ENST00000534405.5:c.118_147dup	ENSP00000434353.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAla...
NM_000543.4:c.118_147dup	NP_000534.3:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu
NM_001007593.2:c.118_147dup	NP_001007594.2:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_005253075.3:c.118_147dup	XP_005253132.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_011520303.1:c.118_147dup	XP_011518605.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XM_011520304.1:c.118_147dup	XP_011518606.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XR_930886.1:n.416_445dup
NM_001318087.1:c.118_147dup	NP_001305016.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318088.1:c.-844_-815dup	NP_001305017.1:n.-844_-815dup
NM_001365135.1:c.118_147dup	NP_001352064.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NR_027400.2:n.303_332dup
NR_134502.1:n.303_332dup
XM_011520304.2:c.118_147dup	XP_011518606.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
XR_001747940.2:n.243_272dup
XR_002957158.1:n.243_272dup
NM_000543.5:c.118_147dup MANE Select	NP_000534.3:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu
NM_001007593.3:c.118_147dup	NP_001007594.2:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318087.2:c.118_147dup	NP_001305016.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NM_001318088.2:c.-844_-815dup	NP_001305017.1:n.-844_-815dup
NM_001365135.2:c.118_147dup	NP_001352064.1:p.Leu49_Ser50insAlaLeuAlaLeuAlaLeuAlaLeuAlaLeu...
NR_027400.3:n.243_272dup
NR_134502.2:n.243_272dup