Canonical Allele Identifier: CA2612221435

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391623-G-GGCCCCCCCACCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391623_6391624insGCCCCCCCACCCCCCCCCCCCCCC , CM000673.2:g.6391623_6391624insGCCCCCCCACCCCCCCCCCCCCCC	GRCh38
NC_000011.9:g.6412853_6412854insGCCCCCCCACCCCCCCCCCCCCCC , CM000673.1:g.6412853_6412854insGCCCCCCCACCCCCCCCCCCCCCC	GRCh37
NC_000011.8:g.6369429_6369430insGCCCCCCCACCCCCCCCCCCCCCC	NCBI36
NG_011780.1:g.6199_6200insGCCCCCCCACCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC MANE Select	ENSP00000340409.4:p.Pro186_Pro187insAlaProProProProProProPro
ENST00000342245.8:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	ENSP00000340409.4:p.Pro186_Pro187insAlaProProProProProProPro
ENST00000527275.5:c.555_556insGCCCCCCCACCCCCCCCCCCCCCC	ENSP00000435350.1:p.Pro185_Pro186insAlaProProProProProProPro
ENST00000530395.1:c.-95-167_-95-166insGCCCCCCCACCCCCCCCCCCCCCC	ENSP00000431479.1:n.-95-167_-95-166insGCCCCCCCACCCCCCCCCCCCCC...
ENST00000531303.5:c.438+120_438+121insGCCCCCCCACCCCCCCCCCCCCCC	ENSP00000432625.1:n.438+120_438+121insGCCCCCCCACCCCCCCCCCCCCC...
ENST00000533123.5:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	ENSP00000435950.1:p.Pro186_Pro187insAlaProProProProProProPro
ENST00000533196.1:n.375-383_375-382insGCCCCCCCACCCCCCCCCCCCCCC
ENST00000534405.5:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	ENSP00000434353.1:p.Pro186_Pro187insAlaProProProProProProPro
NM_000543.4:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	NP_000534.3:p.Pro186_Pro187insAlaProProProProProProPro
NM_001007593.2:c.555_556insGCCCCCCCACCCCCCCCCCCCCCC	NP_001007594.2:p.Pro185_Pro186insAlaProProProProProProPro
XM_005253075.3:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	XP_005253132.1:p.Pro186_Pro187insAlaProProProProProProPro
XM_011520303.1:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	XP_011518605.1:p.Pro186_Pro187insAlaProProProProProProPro
XM_011520304.1:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	XP_011518606.1:p.Pro186_Pro187insAlaProProProProProProPro
XR_930886.1:n.856_857insGCCCCCCCACCCCCCCCCCCCCCC
NM_001318087.1:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	NP_001305016.1:p.Pro186_Pro187insAlaProProProProProProPro
NM_001318088.1:c.-404_-403insGCCCCCCCACCCCCCCCCCCCCCC	NP_001305017.1:n.-404_-403insGCCCCCCCACCCCCCCCCCCCCCC
NM_001365135.1:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	NP_001352064.1:p.Pro186_Pro187insAlaProProProProProProPro
NR_027400.2:n.743_744insGCCCCCCCACCCCCCCCCCCCCCC
NR_134502.1:n.623+120_623+121insGCCCCCCCACCCCCCCCCCCCCCC
XM_011520304.2:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	XP_011518606.1:p.Pro186_Pro187insAlaProProProProProProPro
XR_001747940.2:n.683_684insGCCCCCCCACCCCCCCCCCCCCCC
XR_002957158.1:n.683_684insGCCCCCCCACCCCCCCCCCCCCCC
NM_000543.5:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC MANE Select	NP_000534.3:p.Pro186_Pro187insAlaProProProProProProPro
NM_001007593.3:c.555_556insGCCCCCCCACCCCCCCCCCCCCCC	NP_001007594.2:p.Pro185_Pro186insAlaProProProProProProPro
NM_001318087.2:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	NP_001305016.1:p.Pro186_Pro187insAlaProProProProProProPro
NM_001318088.2:c.-404_-403insGCCCCCCCACCCCCCCCCCCCCCC	NP_001305017.1:n.-404_-403insGCCCCCCCACCCCCCCCCCCCCCC
NM_001365135.2:c.558_559insGCCCCCCCACCCCCCCCCCCCCCC	NP_001352064.1:p.Pro186_Pro187insAlaProProProProProProPro
NR_027400.3:n.683_684insGCCCCCCCACCCCCCCCCCCCCCC
NR_134502.2:n.563+120_563+121insGCCCCCCCACCCCCCCCCCCCCCC