Canonical Allele Identifier: CA2580615628

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2503937
• ClinVar RCV Id: RCV003230928

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390704_6390705delinsCGCTGGC , CM000673.2:g.6390704_6390705delinsCGCTGGC	GRCh38
NC_000011.9:g.6411934_6411935delinsCGCTGGC , CM000673.1:g.6411934_6411935delinsCGCTGGC	GRCh37
NC_000011.8:g.6368510_6368511delinsCGCTGGC	NCBI36
NG_011780.1:g.5280_5281delinsCGCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.106_107delinsCGCTGGC MANE Select	ENSP00000340409.4:p.Val36ArgfsTer?
ENST00000342245.8:c.106_107delinsCGCTGGC	ENSP00000340409.4:p.Val36ArgfsTer?
ENST00000527275.5:c.106_107delinsCGCTGGC	ENSP00000435350.1:p.Val36ArgfsTer?
ENST00000530395.1:c.-96+65_-96+66delinsCGCTGGC	ENSP00000431479.1:n.-96+65_-96+66delinsCGCTGGC
ENST00000531303.5:c.106_107delinsCGCTGGC	ENSP00000432625.1:p.Val36ArgfsTer?
ENST00000533123.5:c.106_107delinsCGCTGGC	ENSP00000435950.1:p.Val36ArgfsTer?
ENST00000533196.1:n.265_266delinsCGCTGGC
ENST00000534405.5:c.106_107delinsCGCTGGC	ENSP00000434353.1:p.Val36ArgfsTer?
NM_000543.4:c.106_107delinsCGCTGGC	NP_000534.3:p.Val36ArgfsTer?
NM_001007593.2:c.106_107delinsCGCTGGC	NP_001007594.2:p.Val36ArgfsTer?
XM_005253075.3:c.106_107delinsCGCTGGC	XP_005253132.1:p.Val36ArgfsTer?
XM_011520303.1:c.106_107delinsCGCTGGC	XP_011518605.1:p.Val36ArgfsTer?
XM_011520304.1:c.106_107delinsCGCTGGC	XP_011518606.1:p.Val36ArgfsTer?
XR_930886.1:n.404_405delinsCGCTGGC
NM_001318087.1:c.106_107delinsCGCTGGC	NP_001305016.1:p.Val36ArgfsTer?
NM_001318088.1:c.-856_-855delinsCGCTGGC	NP_001305017.1:n.-856_-855delinsCGCTGGC
NM_001365135.1:c.106_107delinsCGCTGGC	NP_001352064.1:p.Val36ArgfsTer?
NR_027400.2:n.291_292delinsCGCTGGC
NR_134502.1:n.291_292delinsCGCTGGC
XM_011520304.2:c.106_107delinsCGCTGGC	XP_011518606.1:p.Val36ArgfsTer?
XR_001747940.2:n.231_232delinsCGCTGGC
XR_002957158.1:n.231_232delinsCGCTGGC
NM_000543.5:c.106_107delinsCGCTGGC MANE Select	NP_000534.3:p.Val36ArgfsTer?
NM_001007593.3:c.106_107delinsCGCTGGC	NP_001007594.2:p.Val36ArgfsTer?
NM_001318087.2:c.106_107delinsCGCTGGC	NP_001305016.1:p.Val36ArgfsTer?
NM_001318088.2:c.-856_-855delinsCGCTGGC	NP_001305017.1:n.-856_-855delinsCGCTGGC
NM_001365135.2:c.106_107delinsCGCTGGC	NP_001352064.1:p.Val36ArgfsTer?
NR_027400.3:n.231_232delinsCGCTGGC
NR_134502.2:n.231_232delinsCGCTGGC