Canonical Allele Identifier: CA2612221399

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391623-G-GGCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391623_6391624insGCCCCCCCCCCCCCC , CM000673.2:g.6391623_6391624insGCCCCCCCCCCCCCC	GRCh38
NC_000011.9:g.6412853_6412854insGCCCCCCCCCCCCCC , CM000673.1:g.6412853_6412854insGCCCCCCCCCCCCCC	GRCh37
NC_000011.8:g.6369429_6369430insGCCCCCCCCCCCCCC	NCBI36
NG_011780.1:g.6199_6200insGCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.558_559insGCCCCCCCCCCCCCC MANE Select	ENSP00000340409.4:p.Pro186_Pro187insAlaProProProPro
ENST00000342245.8:c.558_559insGCCCCCCCCCCCCCC	ENSP00000340409.4:p.Pro186_Pro187insAlaProProProPro
ENST00000527275.5:c.555_556insGCCCCCCCCCCCCCC	ENSP00000435350.1:p.Pro185_Pro186insAlaProProProPro
ENST00000530395.1:c.-95-167_-95-166insGCCCCCCCCCCCCCC	ENSP00000431479.1:n.-95-167_-95-166insGCCCCCCCCCCCCCC
ENST00000531303.5:c.438+120_438+121insGCCCCCCCCCCCCCC	ENSP00000432625.1:n.438+120_438+121insGCCCCCCCCCCCCCC
ENST00000533123.5:c.558_559insGCCCCCCCCCCCCCC	ENSP00000435950.1:p.Pro186_Pro187insAlaProProProPro
ENST00000533196.1:n.375-383_375-382insGCCCCCCCCCCCCCC
ENST00000534405.5:c.558_559insGCCCCCCCCCCCCCC	ENSP00000434353.1:p.Pro186_Pro187insAlaProProProPro
NM_000543.4:c.558_559insGCCCCCCCCCCCCCC	NP_000534.3:p.Pro186_Pro187insAlaProProProPro
NM_001007593.2:c.555_556insGCCCCCCCCCCCCCC	NP_001007594.2:p.Pro185_Pro186insAlaProProProPro
XM_005253075.3:c.558_559insGCCCCCCCCCCCCCC	XP_005253132.1:p.Pro186_Pro187insAlaProProProPro
XM_011520303.1:c.558_559insGCCCCCCCCCCCCCC	XP_011518605.1:p.Pro186_Pro187insAlaProProProPro
XM_011520304.1:c.558_559insGCCCCCCCCCCCCCC	XP_011518606.1:p.Pro186_Pro187insAlaProProProPro
XR_930886.1:n.856_857insGCCCCCCCCCCCCCC
NM_001318087.1:c.558_559insGCCCCCCCCCCCCCC	NP_001305016.1:p.Pro186_Pro187insAlaProProProPro
NM_001318088.1:c.-404_-403insGCCCCCCCCCCCCCC	NP_001305017.1:n.-404_-403insGCCCCCCCCCCCCCC
NM_001365135.1:c.558_559insGCCCCCCCCCCCCCC	NP_001352064.1:p.Pro186_Pro187insAlaProProProPro
NR_027400.2:n.743_744insGCCCCCCCCCCCCCC
NR_134502.1:n.623+120_623+121insGCCCCCCCCCCCCCC
XM_011520304.2:c.558_559insGCCCCCCCCCCCCCC	XP_011518606.1:p.Pro186_Pro187insAlaProProProPro
XR_001747940.2:n.683_684insGCCCCCCCCCCCCCC
XR_002957158.1:n.683_684insGCCCCCCCCCCCCCC
NM_000543.5:c.558_559insGCCCCCCCCCCCCCC MANE Select	NP_000534.3:p.Pro186_Pro187insAlaProProProPro
NM_001007593.3:c.555_556insGCCCCCCCCCCCCCC	NP_001007594.2:p.Pro185_Pro186insAlaProProProPro
NM_001318087.2:c.558_559insGCCCCCCCCCCCCCC	NP_001305016.1:p.Pro186_Pro187insAlaProProProPro
NM_001318088.2:c.-404_-403insGCCCCCCCCCCCCCC	NP_001305017.1:n.-404_-403insGCCCCCCCCCCCCCC
NM_001365135.2:c.558_559insGCCCCCCCCCCCCCC	NP_001352064.1:p.Pro186_Pro187insAlaProProProPro
NR_027400.3:n.683_684insGCCCCCCCCCCCCCC
NR_134502.2:n.563+120_563+121insGCCCCCCCCCCCCCC