Canonical Allele Identifier: CA2612221010

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390718-G-GCTGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390723_6390724insCCTGGC , CM000673.2:g.6390723_6390724insCCTGGC	GRCh38
NC_000011.9:g.6411953_6411954insCCTGGC , CM000673.1:g.6411953_6411954insCCTGGC	GRCh37
NC_000011.8:g.6368529_6368530insCCTGGC	NCBI36
NG_011780.1:g.5299_5300insCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.125_126insCCTGGC MANE Select	ENSP00000340409.4:p.Ala42_Leu43insLeuAla
ENST00000342245.8:c.125_126insCCTGGC	ENSP00000340409.4:p.Ala42_Leu43insLeuAla
ENST00000527275.5:c.125_126insCCTGGC	ENSP00000435350.1:p.Ala42_Leu43insLeuAla
ENST00000530395.1:c.-96+84_-96+85insCCTGGC	ENSP00000431479.1:n.-96+84_-96+85insCCTGGC
ENST00000531303.5:c.125_126insCCTGGC	ENSP00000432625.1:p.Ala42_Leu43insLeuAla
ENST00000533123.5:c.125_126insCCTGGC	ENSP00000435950.1:p.Ala42_Leu43insLeuAla
ENST00000533196.1:n.284_285insCCTGGC
ENST00000534405.5:c.125_126insCCTGGC	ENSP00000434353.1:p.Ala42_Leu43insLeuAla
NM_000543.4:c.125_126insCCTGGC	NP_000534.3:p.Ala42_Leu43insLeuAla
NM_001007593.2:c.125_126insCCTGGC	NP_001007594.2:p.Ala42_Leu43insLeuAla
XM_005253075.3:c.125_126insCCTGGC	XP_005253132.1:p.Ala42_Leu43insLeuAla
XM_011520303.1:c.125_126insCCTGGC	XP_011518605.1:p.Ala42_Leu43insLeuAla
XM_011520304.1:c.125_126insCCTGGC	XP_011518606.1:p.Ala42_Leu43insLeuAla
XR_930886.1:n.423_424insCCTGGC
NM_001318087.1:c.125_126insCCTGGC	NP_001305016.1:p.Ala42_Leu43insLeuAla
NM_001318088.1:c.-837_-836insCCTGGC	NP_001305017.1:n.-837_-836insCCTGGC
NM_001365135.1:c.125_126insCCTGGC	NP_001352064.1:p.Ala42_Leu43insLeuAla
NR_027400.2:n.310_311insCCTGGC
NR_134502.1:n.310_311insCCTGGC
XM_011520304.2:c.125_126insCCTGGC	XP_011518606.1:p.Ala42_Leu43insLeuAla
XR_001747940.2:n.250_251insCCTGGC
XR_002957158.1:n.250_251insCCTGGC
NM_000543.5:c.125_126insCCTGGC MANE Select	NP_000534.3:p.Ala42_Leu43insLeuAla
NM_001007593.3:c.125_126insCCTGGC	NP_001007594.2:p.Ala42_Leu43insLeuAla
NM_001318087.2:c.125_126insCCTGGC	NP_001305016.1:p.Ala42_Leu43insLeuAla
NM_001318088.2:c.-837_-836insCCTGGC	NP_001305017.1:n.-837_-836insCCTGGC
NM_001365135.2:c.125_126insCCTGGC	NP_001352064.1:p.Ala42_Leu43insLeuAla
NR_027400.3:n.250_251insCCTGGC
NR_134502.2:n.250_251insCCTGGC