Canonical Allele Identifier: CA1950150296

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394646_6394647delinsGA , CM000673.2:g.6394646_6394647delinsGA	GRCh38
NC_000011.9:g.6415876_6415877delinsGA , CM000673.1:g.6415876_6415877delinsGA	GRCh37
NC_000011.8:g.6372452_6372453delinsGA	NCBI36
NG_011780.1:g.9222_9223delinsGA
NG_029615.1:g.29768_29769delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*39_*40delinsGA MANE Select	ENSP00000340409.4:n.*39_*40delinsGA
ENST00000342245.8:c.*39_*40delinsGA	ENSP00000340409.4:n.*39_*40delinsGA
ENST00000526280.1:c.992_993delinsGA
ENST00000527275.5:c.*39_*40delinsGA	ENSP00000435350.1:n.*39_*40delinsGA
ENST00000531303.5:c.*786_*787delinsGA	ENSP00000432625.1:n.*786_*787delinsGA
ENST00000533123.5:c.*662_*663delinsGA	ENSP00000435950.1:n.*662_*663delinsGA
ENST00000534405.5:c.*766_*767delinsGA	ENSP00000434353.1:n.*766_*767delinsGA
NM_000543.4:c.*39_*40delinsGA	NP_000534.3:n.*39_*40delinsGA
NM_001007593.2:c.*39_*40delinsGA	NP_001007594.2:n.*39_*40delinsGA
XM_011520303.1:c.*39_*40delinsGA	XP_011518605.1:n.*39_*40delinsGA
NM_001318087.1:c.*428_*429delinsGA	NP_001305016.1:n.*428_*429delinsGA
NM_001318088.1:c.*39_*40delinsGA	NP_001305017.1:n.*39_*40delinsGA
NM_001365135.1:c.*39_*40delinsGA	NP_001352064.1:n.*39_*40delinsGA
NR_027400.2:n.1948_1949delinsGA
NR_134502.1:n.1487_1488delinsGA
XR_001747940.2:n.2120_2121delinsGA
XR_002957158.1:n.2302_2303delinsGA
NM_000543.5:c.*39_*40delinsGA MANE Select	NP_000534.3:n.*39_*40delinsGA
NM_001007593.3:c.*39_*40delinsGA	NP_001007594.2:n.*39_*40delinsGA
NM_001318087.2:c.*428_*429delinsGA	NP_001305016.1:n.*428_*429delinsGA
NM_001318088.2:c.*39_*40delinsGA	NP_001305017.1:n.*39_*40delinsGA
NM_001365135.2:c.*39_*40delinsGA	NP_001352064.1:n.*39_*40delinsGA
NR_027400.3:n.1888_1889delinsGA
NR_134502.2:n.1427_1428delinsGA