Canonical Allele Identifier: CA2612224305

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394803-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394806del , CM000673.2:g.6394806del	GRCh38
NC_000011.9:g.6416036del , CM000673.1:g.6416036del	GRCh37
NC_000011.8:g.6372612del	NCBI36
NG_011780.1:g.9382del
NG_029615.1:g.29611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*199del MANE Select	ENSP00000340409.4:n.*199del
ENST00000342245.8:c.*199del	ENSP00000340409.4:n.*199del
ENST00000526280.1:c.1152del
ENST00000533123.5:c.*822del	ENSP00000435950.1:n.*822del
ENST00000534405.5:c.*926del	ENSP00000434353.1:n.*926del
NM_000543.4:c.*199del	NP_000534.3:n.*199del
NM_001007593.2:c.*199del	NP_001007594.2:n.*199del
XM_011520303.1:c.*199del	XP_011518605.1:n.*199del
NM_001318087.1:c.*588del	NP_001305016.1:n.*588del
NM_001318088.1:c.*199del	NP_001305017.1:n.*199del
NM_001365135.1:c.*199del	NP_001352064.1:n.*199del
NR_027400.2:n.2108del
NR_134502.1:n.1647del
XR_001747940.2:n.2280del
XR_002957158.1:n.2462del
NM_000543.5:c.*199del MANE Select	NP_000534.3:n.*199del
NM_001007593.3:c.*199del	NP_001007594.2:n.*199del
NM_001318087.2:c.*588del	NP_001305016.1:n.*588del
NM_001318088.2:c.*199del	NP_001305017.1:n.*199del
NM_001365135.2:c.*199del	NP_001352064.1:n.*199del
NR_027400.3:n.2048del
NR_134502.2:n.1587del