Canonical Allele Identifier: CA2612220926

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390517-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390518del , CM000673.2:g.6390518del	GRCh38
NC_000011.9:g.6411748del , CM000673.1:g.6411748del	GRCh37
NC_000011.8:g.6368324del	NCBI36
NG_011780.1:g.5094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-81del MANE Select	ENSP00000340409.4:n.-81del
ENST00000342245.8:c.-81del	ENSP00000340409.4:n.-81del
ENST00000527275.5:c.-81del	ENSP00000435350.1:n.-81del
ENST00000530395.1:c.-217del	ENSP00000431479.1:n.-217del
ENST00000533123.5:c.-81del	ENSP00000435950.1:n.-81del
ENST00000533196.1:n.79del
ENST00000534405.5:c.-81del	ENSP00000434353.1:n.-81del
NM_000543.4:c.-81del	NP_000534.3:n.-81del
NM_001007593.2:c.-81del	NP_001007594.2:n.-81del
XM_005253075.3:c.-81del	XP_005253132.1:n.-81del
XM_011520303.1:c.-81del	XP_011518605.1:n.-81del
XM_011520304.1:c.-81del	XP_011518606.1:n.-81del
XR_930886.1:n.218del
NM_001318087.1:c.-81del	NP_001305016.1:n.-81del
NM_001318088.1:c.-1042del	NP_001305017.1:n.-1042del
NM_001365135.1:c.-81del	NP_001352064.1:n.-81del
NR_027400.2:n.105del
NR_134502.1:n.105del
XM_011520304.2:c.-81del	XP_011518606.1:n.-81del
XR_001747940.2:n.45del
XR_002957158.1:n.45del
NM_000543.5:c.-81del MANE Select	NP_000534.3:n.-81del
NM_001007593.3:c.-81del	NP_001007594.2:n.-81del
NM_001318087.2:c.-81del	NP_001305016.1:n.-81del
NM_001318088.2:c.-1042del	NP_001305017.1:n.-1042del
NM_001365135.2:c.-81del	NP_001352064.1:n.-81del
NR_027400.3:n.45del
NR_134502.2:n.45del