Canonical Allele Identifier: CA2326567784

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869245_18869254delinsTGCCGCCGCC , CM000681.2:g.18869245_18869254delinsTGCCGCCGCC	GRCh38
NC_000019.9:g.18980054_18980063delinsTGCCGCCGCC , CM000681.1:g.18980054_18980063delinsTGCCGCCGCC	GRCh37
NC_000019.8:g.18841054_18841063delinsTGCCGCCGCC	NCBI36
NG_012070.1:g.31891_31900delinsGGCGGCGGCA
NG_033056.1:g.31891_31900delinsGGCGGCGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*731_*740delinsGGCGGCGGCA (CERS1) MANE Select	ENSP00000485308.1:n.*731_*740delinsGGCGGCGGCA
ENST00000247005.8:c.462_471delinsGGCGGCGGCA (GDF1) MANE Select	ENSP00000247005.5:p.Ala154=
ENST00000247005.7:c.462_471delinsGGCGGCGGCA (GDF1)	ENSP00000247005.5:p.Ala154=
ENST00000623882.3:c.*731_*740delinsGGCGGCGGCA (CERS1)	ENSP00000485308.1:n.*731_*740delinsGGCGGCGGCA
ENST00000623927.1:c.462_471delinsGGCGGCGGCA (CERS1)	ENSP00000485582.1:p.Ala154=
NM_001492.5:c.462_471delinsGGCGGCGGCA (GDF1)	NP_001483.3:p.Ala154=
NM_021267.4:c.*731_*740delinsGGCGGCGGCA (CERS1)	NP_067090.1:n.*731_*740delinsGGCGGCGGCA
NM_001492.6:c.462_471delinsGGCGGCGGCA (GDF1) MANE Select	NP_001483.3:p.Ala154=
NM_021267.5:c.*731_*740delinsGGCGGCGGCA (CERS1) MANE Select	NP_067090.1:n.*731_*740delinsGGCGGCGGCA
NM_001387438.1:c.462_471delinsGGCGGCGGCA (GDF1)	NP_001374367.1:p.Ala154=
NM_001387440.1:c.*1323_*1332delinsGGCGGCGGCA (CERS1)	NP_001374369.1:n.*1323_*1332delinsGGCGGCGGCA