Canonical Allele Identifier: CA5852836

Gene: SMPD1

Linked Data

• dbSNP Id: rs756662386
• ExAC: 11:6414666 CCT / C
• gnomAD v2: 11-6414666-CCT-C
• gnomAD v4: 11-6393436-CCT-C
• MyVariant Identifiers: chr11:g.6414667_6414668del (hg19) ; chr11:g.6393437_6393438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393437_6393438del , CM000673.2:g.6393437_6393438del	GRCh38
NC_000011.9:g.6414667_6414668del , CM000673.1:g.6414667_6414668del	GRCh37
NC_000011.8:g.6371243_6371244del	NCBI36
NG_011780.1:g.8013_8014del
NG_029615.1:g.30977_30978del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1263+50_1263+51del MANE Select	ENSP00000340409.4:n.1263+50_1263+51del
ENST00000342245.8:c.1263+50_1263+51del	ENSP00000340409.4:n.1263+50_1263+51del
ENST00000526280.1:c.321-180_321-179del
ENST00000527275.5:c.1260+50_1260+51del	ENSP00000435350.1:n.1260+50_1260+51del
ENST00000531303.5:c.*94+50_*94+51del	ENSP00000432625.1:n.*94+50_*94+51del
ENST00000531336.1:n.95+50_95+51del
ENST00000533123.5:c.1092-180_1092-179del	ENSP00000435950.1:n.1092-180_1092-179del
ENST00000534405.5:c.*94+50_*94+51del	ENSP00000434353.1:n.*94+50_*94+51del
NM_000543.4:c.1263+50_1263+51del	NP_000534.3:n.1263+50_1263+51del
NM_001007593.2:c.1260+50_1260+51del	NP_001007594.2:n.1260+50_1260+51del
XM_005253075.3:c.1263+50_1263+51del	XP_005253132.1:n.1263+50_1263+51del
XM_011520303.1:c.1132-180_1132-179del	XP_011518605.1:n.1132-180_1132-179del
XM_011520304.1:c.1132-180_1132-179del	XP_011518606.1:n.1132-180_1132-179del
XR_930886.1:n.1601+50_1601+51del
NM_001318087.1:c.1263+50_1263+51del	NP_001305016.1:n.1263+50_1263+51del
NM_001318088.1:c.342+50_342+51del	NP_001305017.1:n.342+50_342+51del
NM_001365135.1:c.1132-180_1132-179del	NP_001352064.1:n.1132-180_1132-179del
NR_027400.2:n.1277-180_1277-179del
NR_134502.1:n.795+50_795+51del
XM_011520304.2:c.1132-180_1132-179del	XP_011518606.1:n.1132-180_1132-179del
XR_001747940.2:n.1428+50_1428+51del
XR_002957158.1:n.1428+50_1428+51del
NM_000543.5:c.1263+50_1263+51del MANE Select	NP_000534.3:n.1263+50_1263+51del
NM_001007593.3:c.1260+50_1260+51del	NP_001007594.2:n.1260+50_1260+51del
NM_001318087.2:c.1263+50_1263+51del	NP_001305016.1:n.1263+50_1263+51del
NM_001318088.2:c.342+50_342+51del	NP_001305017.1:n.342+50_342+51del
NM_001365135.2:c.1132-180_1132-179del	NP_001352064.1:n.1132-180_1132-179del
NR_027400.3:n.1217-180_1217-179del
NR_134502.2:n.735+50_735+51del