Canonical Allele Identifier: CA2612222651

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393114-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393118del , CM000673.2:g.6393118del	GRCh38
NC_000011.9:g.6414348del , CM000673.1:g.6414348del	GRCh37
NC_000011.8:g.6370924del	NCBI36
NG_011780.1:g.7694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092-98del MANE Select	ENSP00000340409.4:n.1092-98del
ENST00000342245.8:c.1092-98del	ENSP00000340409.4:n.1092-98del
ENST00000526280.1:c.321-499del
ENST00000527275.5:c.1089-98del	ENSP00000435350.1:n.1089-98del
ENST00000531303.5:c.439-98del	ENSP00000432625.1:n.439-98del
ENST00000533123.5:c.1092-499del	ENSP00000435950.1:n.1092-499del
ENST00000534405.5:c.1132-98del	ENSP00000434353.1:n.1132-98del
NM_000543.4:c.1092-98del	NP_000534.3:n.1092-98del
NM_001007593.2:c.1089-98del	NP_001007594.2:n.1089-98del
XM_005253075.3:c.1092-98del	XP_005253132.1:n.1092-98del
XM_011520303.1:c.1132-499del	XP_011518605.1:n.1132-499del
XM_011520304.1:c.1132-499del	XP_011518606.1:n.1132-499del
XR_930886.1:n.1430-98del
NM_001318087.1:c.1092-98del	NP_001305016.1:n.1092-98del
NM_001318088.1:c.171-98del	NP_001305017.1:n.171-98del
NM_001365135.1:c.1132-499del	NP_001352064.1:n.1132-499del
NR_027400.2:n.1277-499del
NR_134502.1:n.624-98del
XM_011520304.2:c.1132-499del	XP_011518606.1:n.1132-499del
XR_001747940.2:n.1257-98del
XR_002957158.1:n.1257-98del
NM_000543.5:c.1092-98del MANE Select	NP_000534.3:n.1092-98del
NM_001007593.3:c.1089-98del	NP_001007594.2:n.1089-98del
NM_001318087.2:c.1092-98del	NP_001305016.1:n.1092-98del
NM_001318088.2:c.171-98del	NP_001305017.1:n.171-98del
NM_001365135.2:c.1132-499del	NP_001352064.1:n.1132-499del
NR_027400.3:n.1217-499del
NR_134502.2:n.564-98del