Canonical Allele Identifier: CA2326567566

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868836_18868837delinsTG , CM000681.2:g.18868836_18868837delinsTG	GRCh38
NC_000019.9:g.18979645_18979646delinsTG , CM000681.1:g.18979645_18979646delinsTG	GRCh37
NC_000019.8:g.18840645_18840646delinsTG	NCBI36
NG_012070.1:g.32308_32309delinsCA
NG_033056.1:g.32308_32309delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1148_*1149delinsCA (CERS1) MANE Select	ENSP00000485308.1:n.*1148_*1149delinsCA
ENST00000247005.8:c.879_880delinsCA (GDF1) MANE Select	ENSP00000247005.5:p.Ala293=
ENST00000247005.7:c.879_880delinsCA (GDF1)	ENSP00000247005.5:p.Ala293=
ENST00000623882.3:c.*1148_*1149delinsCA (CERS1)	ENSP00000485308.1:n.*1148_*1149delinsCA
ENST00000623927.1:c.879_880delinsCA (CERS1)	ENSP00000485582.1:p.Ala293=
NM_001492.5:c.879_880delinsCA (GDF1)	NP_001483.3:p.Ala293=
NM_021267.4:c.*1148_*1149delinsCA (CERS1)	NP_067090.1:n.*1148_*1149delinsCA
NM_001492.6:c.879_880delinsCA (GDF1) MANE Select	NP_001483.3:p.Ala293=
NM_021267.5:c.*1148_*1149delinsCA (CERS1) MANE Select	NP_067090.1:n.*1148_*1149delinsCA
NM_001387438.1:c.879_880delinsCA (GDF1)	NP_001374367.1:p.Ala293=
NM_001387440.1:c.*1740_*1741delinsCA (CERS1)	NP_001374369.1:n.*1740_*1741delinsCA