Canonical Allele Identifier: CA2790302287

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391623_6391624insGCCCCCCCCCCCCC , CM000673.2:g.6391623_6391624insGCCCCCCCCCCCCC	GRCh38
NC_000011.9:g.6412853_6412854insGCCCCCCCCCCCCC , CM000673.1:g.6412853_6412854insGCCCCCCCCCCCCC	GRCh37
NC_000011.8:g.6369429_6369430insGCCCCCCCCCCCCC	NCBI36
NG_011780.1:g.6199_6200insGCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.558_559insGCCCCCCCCCCCCC MANE Select	ENSP00000340409.4:p.Pro187AlafsTer?
ENST00000342245.8:c.558_559insGCCCCCCCCCCCCC	ENSP00000340409.4:p.Pro187AlafsTer?
ENST00000527275.5:c.555_556insGCCCCCCCCCCCCC	ENSP00000435350.1:p.Pro186AlafsTer?
ENST00000530395.1:c.-95-167_-95-166insGCCCCCCCCCCCCC	ENSP00000431479.1:n.-95-167_-95-166insGCCCCCCCCCCCCC
ENST00000531303.5:c.438+120_438+121insGCCCCCCCCCCCCC	ENSP00000432625.1:n.438+120_438+121insGCCCCCCCCCCCCC
ENST00000533123.5:c.558_559insGCCCCCCCCCCCCC	ENSP00000435950.1:p.Pro187AlafsTer?
ENST00000533196.1:n.375-383_375-382insGCCCCCCCCCCCCC
ENST00000534405.5:c.558_559insGCCCCCCCCCCCCC	ENSP00000434353.1:p.Pro187AlafsTer?
NM_000543.4:c.558_559insGCCCCCCCCCCCCC	NP_000534.3:p.Pro187AlafsTer?
NM_001007593.2:c.555_556insGCCCCCCCCCCCCC	NP_001007594.2:p.Pro186AlafsTer?
XM_005253075.3:c.558_559insGCCCCCCCCCCCCC	XP_005253132.1:p.Pro187AlafsTer?
XM_011520303.1:c.558_559insGCCCCCCCCCCCCC	XP_011518605.1:p.Pro187AlafsTer?
XM_011520304.1:c.558_559insGCCCCCCCCCCCCC	XP_011518606.1:p.Pro187AlafsTer?
XR_930886.1:n.856_857insGCCCCCCCCCCCCC
NM_001318087.1:c.558_559insGCCCCCCCCCCCCC	NP_001305016.1:p.Pro187AlafsTer?
NM_001318088.1:c.-404_-403insGCCCCCCCCCCCCC	NP_001305017.1:n.-404_-403insGCCCCCCCCCCCCC
NM_001365135.1:c.558_559insGCCCCCCCCCCCCC	NP_001352064.1:p.Pro187AlafsTer?
NR_027400.2:n.743_744insGCCCCCCCCCCCCC
NR_134502.1:n.623+120_623+121insGCCCCCCCCCCCCC
XM_011520304.2:c.558_559insGCCCCCCCCCCCCC	XP_011518606.1:p.Pro187AlafsTer?
XR_001747940.2:n.683_684insGCCCCCCCCCCCCC
XR_002957158.1:n.683_684insGCCCCCCCCCCCCC
NM_000543.5:c.558_559insGCCCCCCCCCCCCC MANE Select	NP_000534.3:p.Pro187AlafsTer?
NM_001007593.3:c.555_556insGCCCCCCCCCCCCC	NP_001007594.2:p.Pro186AlafsTer?
NM_001318087.2:c.558_559insGCCCCCCCCCCCCC	NP_001305016.1:p.Pro187AlafsTer?
NM_001318088.2:c.-404_-403insGCCCCCCCCCCCCC	NP_001305017.1:n.-404_-403insGCCCCCCCCCCCCC
NM_001365135.2:c.558_559insGCCCCCCCCCCCCC	NP_001352064.1:p.Pro187AlafsTer?
NR_027400.3:n.683_684insGCCCCCCCCCCCCC
NR_134502.2:n.563+120_563+121insGCCCCCCCCCCCCC