Canonical Allele Identifier: CA1950150430

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394780_6394781delinsTG , CM000673.2:g.6394780_6394781delinsTG	GRCh38
NC_000011.9:g.6416010_6416011delinsTG , CM000673.1:g.6416010_6416011delinsTG	GRCh37
NC_000011.8:g.6372586_6372587delinsTG	NCBI36
NG_011780.1:g.9356_9357delinsTG
NG_029615.1:g.29634_29635delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*173_*174delinsTG MANE Select	ENSP00000340409.4:n.*173_*174delinsTG
ENST00000342245.8:c.*173_*174delinsTG	ENSP00000340409.4:n.*173_*174delinsTG
ENST00000526280.1:c.1126_1127delinsTG
ENST00000533123.5:c.*796_*797delinsTG	ENSP00000435950.1:n.*796_*797delinsTG
ENST00000534405.5:c.*900_*901delinsTG	ENSP00000434353.1:n.*900_*901delinsTG
NM_000543.4:c.*173_*174delinsTG	NP_000534.3:n.*173_*174delinsTG
NM_001007593.2:c.*173_*174delinsTG	NP_001007594.2:n.*173_*174delinsTG
XM_011520303.1:c.*173_*174delinsTG	XP_011518605.1:n.*173_*174delinsTG
NM_001318087.1:c.*562_*563delinsTG	NP_001305016.1:n.*562_*563delinsTG
NM_001318088.1:c.*173_*174delinsTG	NP_001305017.1:n.*173_*174delinsTG
NM_001365135.1:c.*173_*174delinsTG	NP_001352064.1:n.*173_*174delinsTG
NR_027400.2:n.2082_2083delinsTG
NR_134502.1:n.1621_1622delinsTG
XR_001747940.2:n.2254_2255delinsTG
XR_002957158.1:n.2436_2437delinsTG
NM_000543.5:c.*173_*174delinsTG MANE Select	NP_000534.3:n.*173_*174delinsTG
NM_001007593.3:c.*173_*174delinsTG	NP_001007594.2:n.*173_*174delinsTG
NM_001318087.2:c.*562_*563delinsTG	NP_001305016.1:n.*562_*563delinsTG
NM_001318088.2:c.*173_*174delinsTG	NP_001305017.1:n.*173_*174delinsTG
NM_001365135.2:c.*173_*174delinsTG	NP_001352064.1:n.*173_*174delinsTG
NR_027400.3:n.2022_2023delinsTG
NR_134502.2:n.1561_1562delinsTG