Canonical Allele Identifier: CA2612223196

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393492-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393493_6393494del , CM000673.2:g.6393493_6393494del	GRCh38
NC_000011.9:g.6414723_6414724del , CM000673.1:g.6414723_6414724del	GRCh37
NC_000011.8:g.6371299_6371300del	NCBI36
NG_011780.1:g.8069_8070del
NG_029615.1:g.30921_30922del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1263+106_1263+107del MANE Select	ENSP00000340409.4:n.1263+106_1263+107del
ENST00000342245.8:c.1263+106_1263+107del	ENSP00000340409.4:n.1263+106_1263+107del
ENST00000526280.1:c.321-124_321-123del
ENST00000527275.5:c.1260+106_1260+107del	ENSP00000435350.1:n.1260+106_1260+107del
ENST00000531303.5:c.*94+106_*94+107del	ENSP00000432625.1:n.*94+106_*94+107del
ENST00000531336.1:n.95+106_95+107del
ENST00000533123.5:c.1092-124_1092-123del	ENSP00000435950.1:n.1092-124_1092-123del
ENST00000534405.5:c.*94+106_*94+107del	ENSP00000434353.1:n.*94+106_*94+107del
NM_000543.4:c.1263+106_1263+107del	NP_000534.3:n.1263+106_1263+107del
NM_001007593.2:c.1260+106_1260+107del	NP_001007594.2:n.1260+106_1260+107del
XM_005253075.3:c.1263+106_1263+107del	XP_005253132.1:n.1263+106_1263+107del
XM_011520303.1:c.1132-124_1132-123del	XP_011518605.1:n.1132-124_1132-123del
XM_011520304.1:c.1132-124_1132-123del	XP_011518606.1:n.1132-124_1132-123del
XR_930886.1:n.1601+106_1601+107del
NM_001318087.1:c.1263+106_1263+107del	NP_001305016.1:n.1263+106_1263+107del
NM_001318088.1:c.342+106_342+107del	NP_001305017.1:n.342+106_342+107del
NM_001365135.1:c.1132-124_1132-123del	NP_001352064.1:n.1132-124_1132-123del
NR_027400.2:n.1277-124_1277-123del
NR_134502.1:n.795+106_795+107del
XM_011520304.2:c.1132-124_1132-123del	XP_011518606.1:n.1132-124_1132-123del
XR_001747940.2:n.1428+106_1428+107del
XR_002957158.1:n.1428+106_1428+107del
NM_000543.5:c.1263+106_1263+107del MANE Select	NP_000534.3:n.1263+106_1263+107del
NM_001007593.3:c.1260+106_1260+107del	NP_001007594.2:n.1260+106_1260+107del
NM_001318087.2:c.1263+106_1263+107del	NP_001305016.1:n.1263+106_1263+107del
NM_001318088.2:c.342+106_342+107del	NP_001305017.1:n.342+106_342+107del
NM_001365135.2:c.1132-124_1132-123del	NP_001352064.1:n.1132-124_1132-123del
NR_027400.3:n.1217-124_1217-123del
NR_134502.2:n.735+106_735+107del