Canonical Allele Identifier: CA1950145648

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390657_6390658delinsGA , CM000673.2:g.6390657_6390658delinsGA	GRCh38
NC_000011.9:g.6411887_6411888delinsGA , CM000673.1:g.6411887_6411888delinsGA	GRCh37
NC_000011.8:g.6368463_6368464delinsGA	NCBI36
NG_011780.1:g.5233_5234delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.59_60delinsGA MANE Select	ENSP00000340409.4:p.Gly20=
ENST00000342245.8:c.59_60delinsGA	ENSP00000340409.4:p.Gly20=
ENST00000527275.5:c.59_60delinsGA	ENSP00000435350.1:p.Gly20=
ENST00000530395.1:c.-96+18_-96+19delinsGA	ENSP00000431479.1:n.-96+18_-96+19delinsGA
ENST00000531303.5:c.59_60delinsGA	ENSP00000432625.1:p.Gly20=
ENST00000533123.5:c.59_60delinsGA	ENSP00000435950.1:p.Gly20=
ENST00000533196.1:n.218_219delinsGA
ENST00000534405.5:c.59_60delinsGA	ENSP00000434353.1:p.Gly20=
NM_000543.4:c.59_60delinsGA	NP_000534.3:p.Gly20=
NM_001007593.2:c.59_60delinsGA	NP_001007594.2:p.Gly20=
XM_005253075.3:c.59_60delinsGA	XP_005253132.1:p.Gly20=
XM_011520303.1:c.59_60delinsGA	XP_011518605.1:p.Gly20=
XM_011520304.1:c.59_60delinsGA	XP_011518606.1:p.Gly20=
XR_930886.1:n.357_358delinsGA
NM_001318087.1:c.59_60delinsGA	NP_001305016.1:p.Gly20=
NM_001318088.1:c.-903_-902delinsGA	NP_001305017.1:n.-903_-902delinsGA
NM_001365135.1:c.59_60delinsGA	NP_001352064.1:p.Gly20=
NR_027400.2:n.244_245delinsGA
NR_134502.1:n.244_245delinsGA
XM_011520304.2:c.59_60delinsGA	XP_011518606.1:p.Gly20=
XR_001747940.2:n.184_185delinsGA
XR_002957158.1:n.184_185delinsGA
NM_000543.5:c.59_60delinsGA MANE Select	NP_000534.3:p.Gly20=
NM_001007593.3:c.59_60delinsGA	NP_001007594.2:p.Gly20=
NM_001318087.2:c.59_60delinsGA	NP_001305016.1:p.Gly20=
NM_001318088.2:c.-903_-902delinsGA	NP_001305017.1:n.-903_-902delinsGA
NM_001365135.2:c.59_60delinsGA	NP_001352064.1:p.Gly20=
NR_027400.3:n.184_185delinsGA
NR_134502.2:n.184_185delinsGA