Canonical Allele Identifier: CA1950149137

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394041_6394045delinsGGTGA , CM000673.2:g.6394041_6394045delinsGGTGA	GRCh38
NC_000011.9:g.6415271_6415275delinsGGTGA , CM000673.1:g.6415271_6415275delinsGGTGA	GRCh37
NC_000011.8:g.6371847_6371851delinsGGTGA	NCBI36
NG_011780.1:g.8617_8621delinsGGTGA
NG_029615.1:g.30370_30374delinsTCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1486_1486+4delinsGGTGA
ENST00000342245.8:c.1486_1486+4delinsGGTGA
ENST00000526280.1:c.543_543+4delinsGGTGA
ENST00000527275.5:c.1483_1483+4delinsGGTGA
ENST00000531303.5:c.*317_*317+4delinsGGTGA
ENST00000531336.1:n.318_322delinsGGTGA
ENST00000532367.1:n.322_326delinsGGTGA
ENST00000533123.5:c.*213_*213+4delinsGGTGA
ENST00000534405.5:c.*317_*317+4delinsGGTGA
NM_000543.4:c.1486_1486+4delinsGGTGA
NM_001007593.2:c.1483_1483+4delinsGGTGA
XM_005253075.3:c.1486_1486+4delinsGGTGA
XM_011520303.1:c.1354_1354+4delinsGGTGA
XM_011520304.1:c.1354_1354+4delinsGGTGA
NM_001318087.1:c.1486_1486+4delinsGGTGA
NM_001318088.1:c.565_565+4delinsGGTGA
NM_001365135.1:c.1354_1354+4delinsGGTGA
NR_027400.2:n.1499_1499+4delinsGGTGA
NR_134502.1:n.1018_1018+4delinsGGTGA
XM_011520304.2:c.1354_1354+4delinsGGTGA
XR_001747940.2:n.1651_1651+4delinsGGTGA
XR_002957158.1:n.1853_1853+4delinsGGTGA
NM_000543.5:c.1486_1486+4delinsGGTGA
NM_001007593.3:c.1483_1483+4delinsGGTGA
NM_001318087.2:c.1486_1486+4delinsGGTGA
NM_001318088.2:c.565_565+4delinsGGTGA
NM_001365135.2:c.1354_1354+4delinsGGTGA
NR_027400.3:n.1439_1439+4delinsGGTGA
NR_134502.2:n.958_958+4delinsGGTGA