Canonical Allele Identifier: CA2612222797

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393204-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393205_6393207del , CM000673.2:g.6393205_6393207del	GRCh38
NC_000011.9:g.6414435_6414437del , CM000673.1:g.6414435_6414437del	GRCh37
NC_000011.8:g.6371011_6371013del	NCBI36
NG_011780.1:g.7781_7783del
NG_029615.1:g.31208_31210del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092-11_1092-9del MANE Select	ENSP00000340409.4:n.1092-11_1092-9del
ENST00000342245.8:c.1092-11_1092-9del	ENSP00000340409.4:n.1092-11_1092-9del
ENST00000526280.1:c.321-412_321-410del
ENST00000527275.5:c.1089-11_1089-9del	ENSP00000435350.1:n.1089-11_1089-9del
ENST00000531303.5:c.439-11_439-9del	ENSP00000432625.1:n.439-11_439-9del
ENST00000533123.5:c.1092-412_1092-410del	ENSP00000435950.1:n.1092-412_1092-410del
ENST00000534405.5:c.1132-11_1132-9del	ENSP00000434353.1:n.1132-11_1132-9del
NM_000543.4:c.1092-11_1092-9del	NP_000534.3:n.1092-11_1092-9del
NM_001007593.2:c.1089-11_1089-9del	NP_001007594.2:n.1089-11_1089-9del
XM_005253075.3:c.1092-11_1092-9del	XP_005253132.1:n.1092-11_1092-9del
XM_011520303.1:c.1132-412_1132-410del	XP_011518605.1:n.1132-412_1132-410del
XM_011520304.1:c.1132-412_1132-410del	XP_011518606.1:n.1132-412_1132-410del
XR_930886.1:n.1430-11_1430-9del
NM_001318087.1:c.1092-11_1092-9del	NP_001305016.1:n.1092-11_1092-9del
NM_001318088.1:c.171-11_171-9del	NP_001305017.1:n.171-11_171-9del
NM_001365135.1:c.1132-412_1132-410del	NP_001352064.1:n.1132-412_1132-410del
NR_027400.2:n.1277-412_1277-410del
NR_134502.1:n.624-11_624-9del
XM_011520304.2:c.1132-412_1132-410del	XP_011518606.1:n.1132-412_1132-410del
XR_001747940.2:n.1257-11_1257-9del
XR_002957158.1:n.1257-11_1257-9del
NM_000543.5:c.1092-11_1092-9del MANE Select	NP_000534.3:n.1092-11_1092-9del
NM_001007593.3:c.1089-11_1089-9del	NP_001007594.2:n.1089-11_1089-9del
NM_001318087.2:c.1092-11_1092-9del	NP_001305016.1:n.1092-11_1092-9del
NM_001318088.2:c.171-11_171-9del	NP_001305017.1:n.171-11_171-9del
NM_001365135.2:c.1132-412_1132-410del	NP_001352064.1:n.1132-412_1132-410del
NR_027400.3:n.1217-412_1217-410del
NR_134502.2:n.564-11_564-9del