Canonical Allele Identifier: CA2574738656

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393468-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393472del , CM000673.2:g.6393472del	GRCh38
NC_000011.9:g.6414702del , CM000673.1:g.6414702del	GRCh37
NC_000011.8:g.6371278del	NCBI36
NG_011780.1:g.8048del
NG_029615.1:g.30946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1263+85del MANE Select	ENSP00000340409.4:n.1263+85del
ENST00000342245.8:c.1263+85del	ENSP00000340409.4:n.1263+85del
ENST00000526280.1:c.321-145del
ENST00000527275.5:c.1260+85del	ENSP00000435350.1:n.1260+85del
ENST00000531303.5:c.*94+85del	ENSP00000432625.1:n.*94+85del
ENST00000531336.1:n.95+85del
ENST00000533123.5:c.1092-145del	ENSP00000435950.1:n.1092-145del
ENST00000534405.5:c.*94+85del	ENSP00000434353.1:n.*94+85del
NM_000543.4:c.1263+85del	NP_000534.3:n.1263+85del
NM_001007593.2:c.1260+85del	NP_001007594.2:n.1260+85del
XM_005253075.3:c.1263+85del	XP_005253132.1:n.1263+85del
XM_011520303.1:c.1132-145del	XP_011518605.1:n.1132-145del
XM_011520304.1:c.1132-145del	XP_011518606.1:n.1132-145del
XR_930886.1:n.1601+85del
NM_001318087.1:c.1263+85del	NP_001305016.1:n.1263+85del
NM_001318088.1:c.342+85del	NP_001305017.1:n.342+85del
NM_001365135.1:c.1132-145del	NP_001352064.1:n.1132-145del
NR_027400.2:n.1277-145del
NR_134502.1:n.795+85del
XM_011520304.2:c.1132-145del	XP_011518606.1:n.1132-145del
XR_001747940.2:n.1428+85del
XR_002957158.1:n.1428+85del
NM_000543.5:c.1263+85del MANE Select	NP_000534.3:n.1263+85del
NM_001007593.3:c.1260+85del	NP_001007594.2:n.1260+85del
NM_001318087.2:c.1263+85del	NP_001305016.1:n.1263+85del
NM_001318088.2:c.342+85del	NP_001305017.1:n.342+85del
NM_001365135.2:c.1132-145del	NP_001352064.1:n.1132-145del
NR_027400.3:n.1217-145del
NR_134502.2:n.735+85del