Canonical Allele Identifier: CA2612221019

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390733-G-GGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390735_6390736insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC , CM000673.2:g.6390735_6390736insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	GRCh38
NC_000011.9:g.6411965_6411966insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC , CM000673.1:g.6411965_6411966insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	GRCh37
NC_000011.8:g.6368541_6368542insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NCBI36
NG_011780.1:g.5311_5312insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC MANE Select	ENSP00000340409.4:p.Ala48SerfsTer?
ENST00000342245.8:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	ENSP00000340409.4:p.Ala48SerfsTer?
ENST00000527275.5:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	ENSP00000435350.1:p.Ala48SerfsTer?
ENST00000530395.1:c.-96+96_-96+97insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	ENSP00000431479.1:n.-96+96_-96+97insTCTGTCTGACTCTCGGGTTCTCTGG...
ENST00000531303.5:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	ENSP00000432625.1:p.Ala48SerfsTer?
ENST00000533123.5:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	ENSP00000435950.1:p.Ala48SerfsTer?
ENST00000533196.1:n.296_297insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC
ENST00000534405.5:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	ENSP00000434353.1:p.Ala48SerfsTer?
NM_000543.4:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_000534.3:p.Ala48SerfsTer?
NM_001007593.2:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_001007594.2:p.Ala48SerfsTer?
XM_005253075.3:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	XP_005253132.1:p.Ala48SerfsTer?
XM_011520303.1:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	XP_011518605.1:p.Ala48SerfsTer?
XM_011520304.1:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	XP_011518606.1:p.Ala48SerfsTer?
XR_930886.1:n.435_436insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC
NM_001318087.1:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_001305016.1:p.Ala48SerfsTer?
NM_001318088.1:c.-825_-824insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_001305017.1:n.-825_-824insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC...
NM_001365135.1:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_001352064.1:p.Ala48SerfsTer?
NR_027400.2:n.322_323insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC
NR_134502.1:n.322_323insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC
XM_011520304.2:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	XP_011518606.1:p.Ala48SerfsTer?
XR_001747940.2:n.262_263insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC
XR_002957158.1:n.262_263insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC
NM_000543.5:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC MANE Select	NP_000534.3:p.Ala48SerfsTer?
NM_001007593.3:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_001007594.2:p.Ala48SerfsTer?
NM_001318087.2:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_001305016.1:p.Ala48SerfsTer?
NM_001318088.2:c.-825_-824insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_001305017.1:n.-825_-824insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC...
NM_001365135.2:c.137_138insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC	NP_001352064.1:p.Ala48SerfsTer?
NR_027400.3:n.262_263insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC
NR_134502.2:n.262_263insTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGC