Canonical Allele Identifier: CA2515410837

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391661_6391662insCCCCCCCC , CM000673.2:g.6391661_6391662insCCCCCCCC	GRCh38
NC_000011.9:g.6412891_6412892insCCCCCCCC , CM000673.1:g.6412891_6412892insCCCCCCCC	GRCh37
NC_000011.8:g.6369467_6369468insCCCCCCCC	NCBI36
NG_011780.1:g.6237_6238insCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.596_597insCCCCCCCC MANE Select	ENSP00000340409.4:p.Val200ProfsTer?
ENST00000342245.8:c.596_597insCCCCCCCC	ENSP00000340409.4:p.Val200ProfsTer?
ENST00000527275.5:c.593_594insCCCCCCCC	ENSP00000435350.1:p.Val199ProfsTer?
ENST00000530395.1:c.-95-129_-95-128insCCCCCCCC	ENSP00000431479.1:n.-95-129_-95-128insCCCCCCCC
ENST00000531303.5:c.438+158_438+159insCCCCCCCC	ENSP00000432625.1:n.438+158_438+159insCCCCCCCC
ENST00000533123.5:c.596_597insCCCCCCCC	ENSP00000435950.1:p.Val200ProfsTer?
ENST00000533196.1:n.375-345_375-344insCCCCCCCC
ENST00000534405.5:c.596_597insCCCCCCCC	ENSP00000434353.1:p.Val200ProfsTer?
NM_000543.4:c.596_597insCCCCCCCC	NP_000534.3:p.Val200ProfsTer?
NM_001007593.2:c.593_594insCCCCCCCC	NP_001007594.2:p.Val199ProfsTer?
XM_005253075.3:c.596_597insCCCCCCCC	XP_005253132.1:p.Val200ProfsTer?
XM_011520303.1:c.596_597insCCCCCCCC	XP_011518605.1:p.Val200ProfsTer?
XM_011520304.1:c.596_597insCCCCCCCC	XP_011518606.1:p.Val200ProfsTer?
XR_930886.1:n.894_895insCCCCCCCC
NM_001318087.1:c.596_597insCCCCCCCC	NP_001305016.1:p.Val200ProfsTer?
NM_001318088.1:c.-366_-365insCCCCCCCC	NP_001305017.1:n.-366_-365insCCCCCCCC
NM_001365135.1:c.596_597insCCCCCCCC	NP_001352064.1:p.Val200ProfsTer?
NR_027400.2:n.781_782insCCCCCCCC
NR_134502.1:n.623+158_623+159insCCCCCCCC
XM_011520304.2:c.596_597insCCCCCCCC	XP_011518606.1:p.Val200ProfsTer?
XR_001747940.2:n.721_722insCCCCCCCC
XR_002957158.1:n.721_722insCCCCCCCC
NM_000543.5:c.596_597insCCCCCCCC MANE Select	NP_000534.3:p.Val200ProfsTer?
NM_001007593.3:c.593_594insCCCCCCCC	NP_001007594.2:p.Val199ProfsTer?
NM_001318087.2:c.596_597insCCCCCCCC	NP_001305016.1:p.Val200ProfsTer?
NM_001318088.2:c.-366_-365insCCCCCCCC	NP_001305017.1:n.-366_-365insCCCCCCCC
NM_001365135.2:c.596_597insCCCCCCCC	NP_001352064.1:p.Val200ProfsTer?
NR_027400.3:n.721_722insCCCCCCCC
NR_134502.2:n.563+158_563+159insCCCCCCCC