Canonical Allele Identifier: CA379370089

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6391639_6391641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391639_6391641del , CM000673.2:g.6391639_6391641del	GRCh38
NC_000011.9:g.6412869_6412871del , CM000673.1:g.6412869_6412871del	GRCh37
NC_000011.8:g.6369445_6369447del	NCBI36
NG_011780.1:g.6215_6217del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.574_576del MANE Select	ENSP00000340409.4:p.Ser192del
ENST00000342245.8:c.574_576del	ENSP00000340409.4:p.Ser192del
ENST00000527275.5:c.571_573del	ENSP00000435350.1:p.Ser191del
ENST00000530395.1:c.-95-151_-95-149del	ENSP00000431479.1:n.-95-151_-95-149del
ENST00000531303.5:c.438+136_438+138del	ENSP00000432625.1:n.438+136_438+138del
ENST00000533123.5:c.574_576del	ENSP00000435950.1:p.Ser192del
ENST00000533196.1:n.375-367_375-365del
ENST00000534405.5:c.574_576del	ENSP00000434353.1:p.Ser192del
NM_000543.4:c.574_576del	NP_000534.3:p.Ser192del
NM_001007593.2:c.571_573del	NP_001007594.2:p.Ser191del
XM_005253075.3:c.574_576del	XP_005253132.1:p.Ser192del
XM_011520303.1:c.574_576del	XP_011518605.1:p.Ser192del
XM_011520304.1:c.574_576del	XP_011518606.1:p.Ser192del
XR_930886.1:n.872_874del
NM_001318087.1:c.574_576del	NP_001305016.1:p.Ser192del
NM_001318088.1:c.-388_-386del	NP_001305017.1:n.-388_-386del
NM_001365135.1:c.574_576del	NP_001352064.1:p.Ser192del
NR_027400.2:n.759_761del
NR_134502.1:n.623+136_623+138del
XM_011520304.2:c.574_576del	XP_011518606.1:p.Ser192del
XR_001747940.2:n.699_701del
XR_002957158.1:n.699_701del
NM_000543.5:c.574_576del MANE Select	NP_000534.3:p.Ser192del
NM_001007593.3:c.571_573del	NP_001007594.2:p.Ser191del
NM_001318087.2:c.574_576del	NP_001305016.1:p.Ser192del
NM_001318088.2:c.-388_-386del	NP_001305017.1:n.-388_-386del
NM_001365135.2:c.574_576del	NP_001352064.1:p.Ser192del
NR_027400.3:n.699_701del
NR_134502.2:n.563+136_563+138del