Canonical Allele Identifier: CA1950145687

Gene: SMPD1

Linked Data

• dbSNP Id: rs1554933800

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390704_6390705insCGCTGGCGCTGGCGCTGGCGCTGG , CM000673.2:g.6390704_6390705insCGCTGGCGCTGGCGCTGGCGCTGG	GRCh38
NC_000011.9:g.6411934_6411935insCGCTGGCGCTGGCGCTGGCGCTGG , CM000673.1:g.6411934_6411935insCGCTGGCGCTGGCGCTGGCGCTGG	GRCh37
NC_000011.8:g.6368510_6368511insCGCTGGCGCTGGCGCTGGCGCTGG	NCBI36
NG_011780.1:g.5280_5281insCGCTGGCGCTGGCGCTGGCGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG MANE Select	ENSP00000340409.4:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
ENST00000342245.8:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	ENSP00000340409.4:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
ENST00000527275.5:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	ENSP00000435350.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
ENST00000530395.1:c.-96+65_-96+66insCGCTGGCGCTGGCGCTGGCGCTGG	ENSP00000431479.1:n.-96+65_-96+66insCGCTGGCGCTGGCGCTGGCGCTGG
ENST00000531303.5:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	ENSP00000432625.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
ENST00000533123.5:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	ENSP00000435950.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
ENST00000533196.1:n.265_266insCGCTGGCGCTGGCGCTGGCGCTGG
ENST00000534405.5:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	ENSP00000434353.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
NM_000543.4:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	NP_000534.3:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
NM_001007593.2:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	NP_001007594.2:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
XM_005253075.3:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	XP_005253132.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
XM_011520303.1:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	XP_011518605.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
XM_011520304.1:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	XP_011518606.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
XR_930886.1:n.404_405insCGCTGGCGCTGGCGCTGGCGCTGG
NM_001318087.1:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	NP_001305016.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
NM_001318088.1:c.-856_-855insCGCTGGCGCTGGCGCTGGCGCTGG	NP_001305017.1:n.-856_-855insCGCTGGCGCTGGCGCTGGCGCTGG
NM_001365135.1:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	NP_001352064.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
NR_027400.2:n.291_292insCGCTGGCGCTGGCGCTGGCGCTGG
NR_134502.1:n.291_292insCGCTGGCGCTGGCGCTGGCGCTGG
XM_011520304.2:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	XP_011518606.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
XR_001747940.2:n.231_232insCGCTGGCGCTGGCGCTGGCGCTGG
XR_002957158.1:n.231_232insCGCTGGCGCTGGCGCTGGCGCTGG
NM_000543.5:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG MANE Select	NP_000534.3:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
NM_001007593.3:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	NP_001007594.2:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
NM_001318087.2:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	NP_001305016.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
NM_001318088.2:c.-856_-855insCGCTGGCGCTGGCGCTGGCGCTGG	NP_001305017.1:n.-856_-855insCGCTGGCGCTGGCGCTGGCGCTGG
NM_001365135.2:c.106_107insCGCTGGCGCTGGCGCTGGCGCTGG	NP_001352064.1:p.Leu35_Val36insAlaLeuAlaLeuAlaLeuAlaLeu
NR_027400.3:n.231_232insCGCTGGCGCTGGCGCTGGCGCTGG
NR_134502.2:n.231_232insCGCTGGCGCTGGCGCTGGCGCTGG