Canonical Allele Identifier: CA2612220914

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390507-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390511del , CM000673.2:g.6390511del	GRCh38
NC_000011.9:g.6411741del , CM000673.1:g.6411741del	GRCh37
NC_000011.8:g.6368317del	NCBI36
NG_011780.1:g.5087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-88del MANE Select	ENSP00000340409.4:n.-88del
ENST00000342245.8:c.-88del	ENSP00000340409.4:n.-88del
ENST00000527275.5:c.-88del	ENSP00000435350.1:n.-88del
ENST00000530395.1:c.-224del	ENSP00000431479.1:n.-224del
ENST00000533123.5:c.-88del	ENSP00000435950.1:n.-88del
ENST00000533196.1:n.72del
ENST00000534405.5:c.-88del	ENSP00000434353.1:n.-88del
NM_000543.4:c.-88del	NP_000534.3:n.-88del
NM_001007593.2:c.-88del	NP_001007594.2:n.-88del
XM_005253075.3:c.-88del	XP_005253132.1:n.-88del
XM_011520303.1:c.-88del	XP_011518605.1:n.-88del
XM_011520304.1:c.-88del	XP_011518606.1:n.-88del
XR_930886.1:n.211del
NM_001318087.1:c.-88del	NP_001305016.1:n.-88del
NM_001318088.1:c.-1049del	NP_001305017.1:n.-1049del
NM_001365135.1:c.-88del	NP_001352064.1:n.-88del
NR_027400.2:n.98del
NR_134502.1:n.98del
XM_011520304.2:c.-88del	XP_011518606.1:n.-88del
XR_001747940.2:n.38del
XR_002957158.1:n.38del
NM_000543.5:c.-88del MANE Select	NP_000534.3:n.-88del
NM_001007593.3:c.-88del	NP_001007594.2:n.-88del
NM_001318087.2:c.-88del	NP_001305016.1:n.-88del
NM_001318088.2:c.-1049del	NP_001305017.1:n.-1049del
NM_001365135.2:c.-88del	NP_001352064.1:n.-88del
NR_027400.3:n.38del
NR_134502.2:n.38del