Canonical Allele Identifier: CA2790309867

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394807del , CM000673.2:g.6394807del	GRCh38
NC_000011.9:g.6416037del , CM000673.1:g.6416037del	GRCh37
NC_000011.8:g.6372613del	NCBI36
NG_011780.1:g.9383del
NG_029615.1:g.29608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*200del MANE Select	ENSP00000340409.4:n.*200del
ENST00000342245.8:c.*200del	ENSP00000340409.4:n.*200del
ENST00000526280.1:c.1153del
ENST00000533123.5:c.*823del	ENSP00000435950.1:n.*823del
ENST00000534405.5:c.*927del	ENSP00000434353.1:n.*927del
NM_000543.4:c.*200del	NP_000534.3:n.*200del
NM_001007593.2:c.*200del	NP_001007594.2:n.*200del
XM_011520303.1:c.*200del	XP_011518605.1:n.*200del
NM_001318087.1:c.*589del	NP_001305016.1:n.*589del
NM_001318088.1:c.*200del	NP_001305017.1:n.*200del
NM_001365135.1:c.*200del	NP_001352064.1:n.*200del
NR_027400.2:n.2109del
NR_134502.1:n.1648del
XR_001747940.2:n.2281del
XR_002957158.1:n.2463del
NM_000543.5:c.*200del MANE Select	NP_000534.3:n.*200del
NM_001007593.3:c.*200del	NP_001007594.2:n.*200del
NM_001318087.2:c.*589del	NP_001305016.1:n.*589del
NM_001318088.2:c.*200del	NP_001305017.1:n.*200del
NM_001365135.2:c.*200del	NP_001352064.1:n.*200del
NR_027400.3:n.2049del
NR_134502.2:n.1588del