Canonical Allele Identifier: CA2612222628

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393096-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393099_6393100del , CM000673.2:g.6393099_6393100del	GRCh38
NC_000011.9:g.6414329_6414330del , CM000673.1:g.6414329_6414330del	GRCh37
NC_000011.8:g.6370905_6370906del	NCBI36
NG_011780.1:g.7675_7676del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092-117_1092-116del MANE Select	ENSP00000340409.4:n.1092-117_1092-116del
ENST00000342245.8:c.1092-117_1092-116del	ENSP00000340409.4:n.1092-117_1092-116del
ENST00000526280.1:c.321-518_321-517del
ENST00000527275.5:c.1089-117_1089-116del	ENSP00000435350.1:n.1089-117_1089-116del
ENST00000531303.5:c.439-117_439-116del	ENSP00000432625.1:n.439-117_439-116del
ENST00000533123.5:c.1092-518_1092-517del	ENSP00000435950.1:n.1092-518_1092-517del
ENST00000534405.5:c.1132-117_1132-116del	ENSP00000434353.1:n.1132-117_1132-116del
NM_000543.4:c.1092-117_1092-116del	NP_000534.3:n.1092-117_1092-116del
NM_001007593.2:c.1089-117_1089-116del	NP_001007594.2:n.1089-117_1089-116del
XM_005253075.3:c.1092-117_1092-116del	XP_005253132.1:n.1092-117_1092-116del
XM_011520303.1:c.1132-518_1132-517del	XP_011518605.1:n.1132-518_1132-517del
XM_011520304.1:c.1132-518_1132-517del	XP_011518606.1:n.1132-518_1132-517del
XR_930886.1:n.1430-117_1430-116del
NM_001318087.1:c.1092-117_1092-116del	NP_001305016.1:n.1092-117_1092-116del
NM_001318088.1:c.171-117_171-116del	NP_001305017.1:n.171-117_171-116del
NM_001365135.1:c.1132-518_1132-517del	NP_001352064.1:n.1132-518_1132-517del
NR_027400.2:n.1277-518_1277-517del
NR_134502.1:n.624-117_624-116del
XM_011520304.2:c.1132-518_1132-517del	XP_011518606.1:n.1132-518_1132-517del
XR_001747940.2:n.1257-117_1257-116del
XR_002957158.1:n.1257-117_1257-116del
NM_000543.5:c.1092-117_1092-116del MANE Select	NP_000534.3:n.1092-117_1092-116del
NM_001007593.3:c.1089-117_1089-116del	NP_001007594.2:n.1089-117_1089-116del
NM_001318087.2:c.1092-117_1092-116del	NP_001305016.1:n.1092-117_1092-116del
NM_001318088.2:c.171-117_171-116del	NP_001305017.1:n.171-117_171-116del
NM_001365135.2:c.1132-518_1132-517del	NP_001352064.1:n.1132-518_1132-517del
NR_027400.3:n.1217-518_1217-517del
NR_134502.2:n.564-117_564-116del