Canonical Allele Identifier: CA2612224470

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394917-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394920del , CM000673.2:g.6394920del	GRCh38
NC_000011.9:g.6416150del , CM000673.1:g.6416150del	GRCh37
NC_000011.8:g.6372726del	NCBI36
NG_011780.1:g.9496del
NG_029615.1:g.29497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*313del MANE Select	ENSP00000340409.4:n.*313del
ENST00000342245.8:c.*313del	ENSP00000340409.4:n.*313del
ENST00000526280.1:c.1266del
ENST00000533123.5:c.*936del	ENSP00000435950.1:n.*936del
ENST00000534405.5:c.*1040del	ENSP00000434353.1:n.*1040del
NM_000543.4:c.*313del	NP_000534.3:n.*313del
NM_001007593.2:c.*313del	NP_001007594.2:n.*313del
XM_011520303.1:c.*313del	XP_011518605.1:n.*313del
NM_001318087.1:c.*702del	NP_001305016.1:n.*702del
NM_001318088.1:c.*313del	NP_001305017.1:n.*313del
NM_001365135.1:c.*313del	NP_001352064.1:n.*313del
NR_027400.2:n.2222del
NR_134502.1:n.1761del
XR_001747940.2:n.2394del
XR_002957158.1:n.2576del
NM_000543.5:c.*313del MANE Select	NP_000534.3:n.*313del
NM_001007593.3:c.*313del	NP_001007594.2:n.*313del
NM_001318087.2:c.*702del	NP_001305016.1:n.*702del
NM_001318088.2:c.*313del	NP_001305017.1:n.*313del
NM_001365135.2:c.*313del	NP_001352064.1:n.*313del
NR_027400.3:n.2162del
NR_134502.2:n.1701del