Canonical Allele Identifier: CA679152255

Gene: SMPD1

Linked Data

• dbSNP Id: rs754271358
• gnomAD v3: 11-6392486-CTTTTTTT-C
• gnomAD v4: 11-6392486-CTTTTTTT-C
• MyVariant Identifiers: chr11:g.6413717_6413723del (hg19) ; chr11:g.6392487_6392493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392509_6392515del , CM000673.2:g.6392509_6392515del	GRCh38
NC_000011.9:g.6413739_6413745del , CM000673.1:g.6413739_6413745del	GRCh37
NC_000011.8:g.6370315_6370321del	NCBI36
NG_011780.1:g.7085_7091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+353_1091+359del MANE Select	ENSP00000340409.4:n.1091+353_1091+359del
ENST00000342245.8:c.1091+353_1091+359del	ENSP00000340409.4:n.1091+353_1091+359del
ENST00000526280.1:c.320+313_320+319del
ENST00000527275.5:c.1088+353_1088+359del	ENSP00000435350.1:n.1088+353_1088+359del
ENST00000531303.5:c.439-707_439-701del	ENSP00000432625.1:n.439-707_439-701del
ENST00000533123.5:c.1091+353_1091+359del	ENSP00000435950.1:n.1091+353_1091+359del
ENST00000534405.5:c.1131+313_1131+319del	ENSP00000434353.1:n.1131+313_1131+319del
NM_000543.4:c.1091+353_1091+359del	NP_000534.3:n.1091+353_1091+359del
NM_001007593.2:c.1088+353_1088+359del	NP_001007594.2:n.1088+353_1088+359del
XM_005253075.3:c.1091+353_1091+359del	XP_005253132.1:n.1091+353_1091+359del
XM_011520303.1:c.1131+313_1131+319del	XP_011518605.1:n.1131+313_1131+319del
XM_011520304.1:c.1131+313_1131+319del	XP_011518606.1:n.1131+313_1131+319del
XR_930886.1:n.1429+313_1429+319del
NM_001318087.1:c.1091+353_1091+359del	NP_001305016.1:n.1091+353_1091+359del
NM_001318088.1:c.170+313_170+319del	NP_001305017.1:n.170+313_170+319del
NM_001365135.1:c.1131+313_1131+319del	NP_001352064.1:n.1131+313_1131+319del
NR_027400.2:n.1276+353_1276+359del
NR_134502.1:n.624-707_624-701del
XM_011520304.2:c.1131+313_1131+319del	XP_011518606.1:n.1131+313_1131+319del
XR_001747940.2:n.1256+313_1256+319del
XR_002957158.1:n.1256+313_1256+319del
NM_000543.5:c.1091+353_1091+359del MANE Select	NP_000534.3:n.1091+353_1091+359del
NM_001007593.3:c.1088+353_1088+359del	NP_001007594.2:n.1088+353_1088+359del
NM_001318087.2:c.1091+353_1091+359del	NP_001305016.1:n.1091+353_1091+359del
NM_001318088.2:c.170+313_170+319del	NP_001305017.1:n.170+313_170+319del
NM_001365135.2:c.1131+313_1131+319del	NP_001352064.1:n.1131+313_1131+319del
NR_027400.3:n.1216+353_1216+359del
NR_134502.2:n.564-707_564-701del