Canonical Allele Identifier: CA2612221405

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391623-G-GGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391623_6391624insGGC , CM000673.2:g.6391623_6391624insGGC	GRCh38
NC_000011.9:g.6412853_6412854insGGC , CM000673.1:g.6412853_6412854insGGC	GRCh37
NC_000011.8:g.6369429_6369430insGGC	NCBI36
NG_011780.1:g.6199_6200insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.558_559insGGC MANE Select	ENSP00000340409.4:p.Pro186_Pro187insGly
ENST00000342245.8:c.558_559insGGC	ENSP00000340409.4:p.Pro186_Pro187insGly
ENST00000527275.5:c.555_556insGGC	ENSP00000435350.1:p.Pro185_Pro186insGly
ENST00000530395.1:c.-95-167_-95-166insGGC	ENSP00000431479.1:n.-95-167_-95-166insGGC
ENST00000531303.5:c.438+120_438+121insGGC	ENSP00000432625.1:n.438+120_438+121insGGC
ENST00000533123.5:c.558_559insGGC	ENSP00000435950.1:p.Pro186_Pro187insGly
ENST00000533196.1:n.375-383_375-382insGGC
ENST00000534405.5:c.558_559insGGC	ENSP00000434353.1:p.Pro186_Pro187insGly
NM_000543.4:c.558_559insGGC	NP_000534.3:p.Pro186_Pro187insGly
NM_001007593.2:c.555_556insGGC	NP_001007594.2:p.Pro185_Pro186insGly
XM_005253075.3:c.558_559insGGC	XP_005253132.1:p.Pro186_Pro187insGly
XM_011520303.1:c.558_559insGGC	XP_011518605.1:p.Pro186_Pro187insGly
XM_011520304.1:c.558_559insGGC	XP_011518606.1:p.Pro186_Pro187insGly
XR_930886.1:n.856_857insGGC
NM_001318087.1:c.558_559insGGC	NP_001305016.1:p.Pro186_Pro187insGly
NM_001318088.1:c.-404_-403insGGC	NP_001305017.1:n.-404_-403insGGC
NM_001365135.1:c.558_559insGGC	NP_001352064.1:p.Pro186_Pro187insGly
NR_027400.2:n.743_744insGGC
NR_134502.1:n.623+120_623+121insGGC
XM_011520304.2:c.558_559insGGC	XP_011518606.1:p.Pro186_Pro187insGly
XR_001747940.2:n.683_684insGGC
XR_002957158.1:n.683_684insGGC
NM_000543.5:c.558_559insGGC MANE Select	NP_000534.3:p.Pro186_Pro187insGly
NM_001007593.3:c.555_556insGGC	NP_001007594.2:p.Pro185_Pro186insGly
NM_001318087.2:c.558_559insGGC	NP_001305016.1:p.Pro186_Pro187insGly
NM_001318088.2:c.-404_-403insGGC	NP_001305017.1:n.-404_-403insGGC
NM_001365135.2:c.558_559insGGC	NP_001352064.1:p.Pro186_Pro187insGly
NR_027400.3:n.683_684insGGC
NR_134502.2:n.563+120_563+121insGGC