Canonical Allele Identifier: CA2612221601

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391624-C-CCCCCCAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391632_6391633insACCCCCAAA , CM000673.2:g.6391632_6391633insACCCCCAAA	GRCh38
NC_000011.9:g.6412862_6412863insACCCCCAAA , CM000673.1:g.6412862_6412863insACCCCCAAA	GRCh37
NC_000011.8:g.6369438_6369439insACCCCCAAA	NCBI36
NG_011780.1:g.6208_6209insACCCCCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.567_568insACCCCCAAA MANE Select	ENSP00000340409.4:p.Lys189_Pro190insThrProLys
ENST00000342245.8:c.567_568insACCCCCAAA	ENSP00000340409.4:p.Lys189_Pro190insThrProLys
ENST00000527275.5:c.564_565insACCCCCAAA	ENSP00000435350.1:p.Lys188_Pro189insThrProLys
ENST00000530395.1:c.-95-158_-95-157insACCCCCAAA	ENSP00000431479.1:n.-95-158_-95-157insACCCCCAAA
ENST00000531303.5:c.438+129_438+130insACCCCCAAA	ENSP00000432625.1:n.438+129_438+130insACCCCCAAA
ENST00000533123.5:c.567_568insACCCCCAAA	ENSP00000435950.1:p.Lys189_Pro190insThrProLys
ENST00000533196.1:n.375-374_375-373insACCCCCAAA
ENST00000534405.5:c.567_568insACCCCCAAA	ENSP00000434353.1:p.Lys189_Pro190insThrProLys
NM_000543.4:c.567_568insACCCCCAAA	NP_000534.3:p.Lys189_Pro190insThrProLys
NM_001007593.2:c.564_565insACCCCCAAA	NP_001007594.2:p.Lys188_Pro189insThrProLys
XM_005253075.3:c.567_568insACCCCCAAA	XP_005253132.1:p.Lys189_Pro190insThrProLys
XM_011520303.1:c.567_568insACCCCCAAA	XP_011518605.1:p.Lys189_Pro190insThrProLys
XM_011520304.1:c.567_568insACCCCCAAA	XP_011518606.1:p.Lys189_Pro190insThrProLys
XR_930886.1:n.865_866insACCCCCAAA
NM_001318087.1:c.567_568insACCCCCAAA	NP_001305016.1:p.Lys189_Pro190insThrProLys
NM_001318088.1:c.-395_-394insACCCCCAAA	NP_001305017.1:n.-395_-394insACCCCCAAA
NM_001365135.1:c.567_568insACCCCCAAA	NP_001352064.1:p.Lys189_Pro190insThrProLys
NR_027400.2:n.752_753insACCCCCAAA
NR_134502.1:n.623+129_623+130insACCCCCAAA
XM_011520304.2:c.567_568insACCCCCAAA	XP_011518606.1:p.Lys189_Pro190insThrProLys
XR_001747940.2:n.692_693insACCCCCAAA
XR_002957158.1:n.692_693insACCCCCAAA
NM_000543.5:c.567_568insACCCCCAAA MANE Select	NP_000534.3:p.Lys189_Pro190insThrProLys
NM_001007593.3:c.564_565insACCCCCAAA	NP_001007594.2:p.Lys188_Pro189insThrProLys
NM_001318087.2:c.567_568insACCCCCAAA	NP_001305016.1:p.Lys189_Pro190insThrProLys
NM_001318088.2:c.-395_-394insACCCCCAAA	NP_001305017.1:n.-395_-394insACCCCCAAA
NM_001365135.2:c.567_568insACCCCCAAA	NP_001352064.1:p.Lys189_Pro190insThrProLys
NR_027400.3:n.692_693insACCCCCAAA
NR_134502.2:n.563+129_563+130insACCCCCAAA