Canonical Allele Identifier: CA217301432

Gene: SMPD1

Linked Data

• dbSNP Id: rs1055441709
• gnomAD v4: 11-6393073-GAA-G
• MyVariant Identifiers: chr11:g.6414304_6414305del (hg19) ; chr11:g.6393074_6393075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393074_6393075del , CM000673.2:g.6393074_6393075del	GRCh38
NC_000011.9:g.6414304_6414305del , CM000673.1:g.6414304_6414305del	GRCh37
NC_000011.8:g.6370880_6370881del	NCBI36
NG_011780.1:g.7650_7651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1092-142_1092-141del MANE Select	ENSP00000340409.4:n.1092-142_1092-141del
ENST00000342245.8:c.1092-142_1092-141del	ENSP00000340409.4:n.1092-142_1092-141del
ENST00000526280.1:c.321-543_321-542del
ENST00000527275.5:c.1089-142_1089-141del	ENSP00000435350.1:n.1089-142_1089-141del
ENST00000531303.5:c.439-142_439-141del	ENSP00000432625.1:n.439-142_439-141del
ENST00000533123.5:c.1092-543_1092-542del	ENSP00000435950.1:n.1092-543_1092-542del
ENST00000534405.5:c.1132-142_1132-141del	ENSP00000434353.1:n.1132-142_1132-141del
NM_000543.4:c.1092-142_1092-141del	NP_000534.3:n.1092-142_1092-141del
NM_001007593.2:c.1089-142_1089-141del	NP_001007594.2:n.1089-142_1089-141del
XM_005253075.3:c.1092-142_1092-141del	XP_005253132.1:n.1092-142_1092-141del
XM_011520303.1:c.1132-543_1132-542del	XP_011518605.1:n.1132-543_1132-542del
XM_011520304.1:c.1132-543_1132-542del	XP_011518606.1:n.1132-543_1132-542del
XR_930886.1:n.1430-142_1430-141del
NM_001318087.1:c.1092-142_1092-141del	NP_001305016.1:n.1092-142_1092-141del
NM_001318088.1:c.171-142_171-141del	NP_001305017.1:n.171-142_171-141del
NM_001365135.1:c.1132-543_1132-542del	NP_001352064.1:n.1132-543_1132-542del
NR_027400.2:n.1277-543_1277-542del
NR_134502.1:n.624-142_624-141del
XM_011520304.2:c.1132-543_1132-542del	XP_011518606.1:n.1132-543_1132-542del
XR_001747940.2:n.1257-142_1257-141del
XR_002957158.1:n.1257-142_1257-141del
NM_000543.5:c.1092-142_1092-141del MANE Select	NP_000534.3:n.1092-142_1092-141del
NM_001007593.3:c.1089-142_1089-141del	NP_001007594.2:n.1089-142_1089-141del
NM_001318087.2:c.1092-142_1092-141del	NP_001305016.1:n.1092-142_1092-141del
NM_001318088.2:c.171-142_171-141del	NP_001305017.1:n.171-142_171-141del
NM_001365135.2:c.1132-543_1132-542del	NP_001352064.1:n.1132-543_1132-542del
NR_027400.3:n.1217-543_1217-542del
NR_134502.2:n.564-142_564-141del