Canonical Allele Identifier: CA934768167

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392486-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 11-6392486-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392515_6392516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.6392515_6392516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.6413745_6413746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.6413745_6413746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.6370321_6370322insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_011780.1:g.7091_7092insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000340409.4:n.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTT...
ENST00000342245.8:c.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000340409.4:n.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTT...
ENST00000526280.1:c.320+319_320+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000527275.5:c.1088+359_1088+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000435350.1:n.1088+359_1088+360insTTTTTTTTTTTTTTTTTTTTT...
ENST00000531303.5:c.439-701_439-700insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000432625.1:n.439-701_439-700insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000533123.5:c.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000435950.1:n.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTT...
ENST00000534405.5:c.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000434353.1:n.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTT...
NM_000543.4:c.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000534.3:n.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001007593.2:c.1088+359_1088+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001007594.2:n.1088+359_1088+360insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005253075.3:c.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005253132.1:n.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011520303.1:c.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011518605.1:n.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011520304.1:c.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011518606.1:n.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTT...
XR_930886.1:n.1429+319_1429+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001318087.1:c.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001305016.1:n.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318088.1:c.170+319_170+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001305017.1:n.170+319_170+320insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001365135.1:c.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001352064.1:n.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTT...
NR_027400.2:n.1276+359_1276+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NR_134502.1:n.624-701_624-700insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_011520304.2:c.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011518606.1:n.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTT...
XR_001747940.2:n.1256+319_1256+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_002957158.1:n.1256+319_1256+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_000543.5:c.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000534.3:n.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001007593.3:c.1088+359_1088+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001007594.2:n.1088+359_1088+360insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318087.2:c.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001305016.1:n.1091+359_1091+360insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318088.2:c.170+319_170+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001305017.1:n.170+319_170+320insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001365135.2:c.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001352064.1:n.1131+319_1131+320insTTTTTTTTTTTTTTTTTTTTTTTT...
NR_027400.3:n.1216+359_1216+360insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NR_134502.2:n.564-701_564-700insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT