Canonical Allele Identifier: CA1950146845

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847965060
• gnomAD v4: 11-6392336-TTTTTTTTTTTTTTTAGTTTAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392342_6392362del , CM000673.2:g.6392342_6392362del	GRCh38
NC_000011.9:g.6413572_6413592del , CM000673.1:g.6413572_6413592del	GRCh37
NC_000011.8:g.6370148_6370168del	NCBI36
NG_011780.1:g.6918_6938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+186_1091+206del MANE Select	ENSP00000340409.4:n.1091+186_1091+206del
ENST00000342245.8:c.1091+186_1091+206del	ENSP00000340409.4:n.1091+186_1091+206del
ENST00000526280.1:c.320+146_320+166del
ENST00000527275.5:c.1088+186_1088+206del	ENSP00000435350.1:n.1088+186_1088+206del
ENST00000531303.5:c.438+839_439-854del	ENSP00000432625.1:n.438+839_439-854del
ENST00000533123.5:c.1091+186_1091+206del	ENSP00000435950.1:n.1091+186_1091+206del
ENST00000534405.5:c.1131+146_1131+166del	ENSP00000434353.1:n.1131+146_1131+166del
NM_000543.4:c.1091+186_1091+206del	NP_000534.3:n.1091+186_1091+206del
NM_001007593.2:c.1088+186_1088+206del	NP_001007594.2:n.1088+186_1088+206del
XM_005253075.3:c.1091+186_1091+206del	XP_005253132.1:n.1091+186_1091+206del
XM_011520303.1:c.1131+146_1131+166del	XP_011518605.1:n.1131+146_1131+166del
XM_011520304.1:c.1131+146_1131+166del	XP_011518606.1:n.1131+146_1131+166del
XR_930886.1:n.1429+146_1429+166del
NM_001318087.1:c.1091+186_1091+206del	NP_001305016.1:n.1091+186_1091+206del
NM_001318088.1:c.170+146_170+166del	NP_001305017.1:n.170+146_170+166del
NM_001365135.1:c.1131+146_1131+166del	NP_001352064.1:n.1131+146_1131+166del
NR_027400.2:n.1276+186_1276+206del
NR_134502.1:n.623+839_624-854del
XM_011520304.2:c.1131+146_1131+166del	XP_011518606.1:n.1131+146_1131+166del
XR_001747940.2:n.1256+146_1256+166del
XR_002957158.1:n.1256+146_1256+166del
NM_000543.5:c.1091+186_1091+206del MANE Select	NP_000534.3:n.1091+186_1091+206del
NM_001007593.3:c.1088+186_1088+206del	NP_001007594.2:n.1088+186_1088+206del
NM_001318087.2:c.1091+186_1091+206del	NP_001305016.1:n.1091+186_1091+206del
NM_001318088.2:c.170+146_170+166del	NP_001305017.1:n.170+146_170+166del
NM_001365135.2:c.1131+146_1131+166del	NP_001352064.1:n.1131+146_1131+166del
NR_027400.3:n.1216+186_1216+206del
NR_134502.2:n.563+839_564-854del