Canonical Allele Identifier: CA1950150317

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394654_6394655delinsGA , CM000673.2:g.6394654_6394655delinsGA	GRCh38
NC_000011.9:g.6415884_6415885delinsGA , CM000673.1:g.6415884_6415885delinsGA	GRCh37
NC_000011.8:g.6372460_6372461delinsGA	NCBI36
NG_011780.1:g.9230_9231delinsGA
NG_029615.1:g.29760_29761delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*47_*48delinsGA MANE Select	ENSP00000340409.4:n.*47_*48delinsGA
ENST00000342245.8:c.*47_*48delinsGA	ENSP00000340409.4:n.*47_*48delinsGA
ENST00000526280.1:c.1000_1001delinsGA
ENST00000527275.5:c.*47_*48delinsGA	ENSP00000435350.1:n.*47_*48delinsGA
ENST00000531303.5:c.*794_*795delinsGA	ENSP00000432625.1:n.*794_*795delinsGA
ENST00000533123.5:c.*670_*671delinsGA	ENSP00000435950.1:n.*670_*671delinsGA
ENST00000534405.5:c.*774_*775delinsGA	ENSP00000434353.1:n.*774_*775delinsGA
NM_000543.4:c.*47_*48delinsGA	NP_000534.3:n.*47_*48delinsGA
NM_001007593.2:c.*47_*48delinsGA	NP_001007594.2:n.*47_*48delinsGA
XM_011520303.1:c.*47_*48delinsGA	XP_011518605.1:n.*47_*48delinsGA
NM_001318087.1:c.*436_*437delinsGA	NP_001305016.1:n.*436_*437delinsGA
NM_001318088.1:c.*47_*48delinsGA	NP_001305017.1:n.*47_*48delinsGA
NM_001365135.1:c.*47_*48delinsGA	NP_001352064.1:n.*47_*48delinsGA
NR_027400.2:n.1956_1957delinsGA
NR_134502.1:n.1495_1496delinsGA
XR_001747940.2:n.2128_2129delinsGA
XR_002957158.1:n.2310_2311delinsGA
NM_000543.5:c.*47_*48delinsGA MANE Select	NP_000534.3:n.*47_*48delinsGA
NM_001007593.3:c.*47_*48delinsGA	NP_001007594.2:n.*47_*48delinsGA
NM_001318087.2:c.*436_*437delinsGA	NP_001305016.1:n.*436_*437delinsGA
NM_001318088.2:c.*47_*48delinsGA	NP_001305017.1:n.*47_*48delinsGA
NM_001365135.2:c.*47_*48delinsGA	NP_001352064.1:n.*47_*48delinsGA
NR_027400.3:n.1896_1897delinsGA
NR_134502.2:n.1435_1436delinsGA