Canonical Allele Identifier: CA2326567760

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869195_18869204delinsGCGCCCTGGC , CM000681.2:g.18869195_18869204delinsGCGCCCTGGC	GRCh38
NC_000019.9:g.18980004_18980013delinsGCGCCCTGGC , CM000681.1:g.18980004_18980013delinsGCGCCCTGGC	GRCh37
NC_000019.8:g.18841004_18841013delinsGCGCCCTGGC	NCBI36
NG_012070.1:g.31941_31950delinsGCCAGGGCGC
NG_033056.1:g.31941_31950delinsGCCAGGGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*781_*790delinsGCCAGGGCGC (CERS1) MANE Select	ENSP00000485308.1:n.*781_*790delinsGCCAGGGCGC
ENST00000247005.8:c.512_521delinsGCCAGGGCGC (GDF1) MANE Select	ENSP00000247005.5:p.Gly171=
ENST00000247005.7:c.512_521delinsGCCAGGGCGC (GDF1)	ENSP00000247005.5:p.Gly171=
ENST00000623882.3:c.*781_*790delinsGCCAGGGCGC (CERS1)	ENSP00000485308.1:n.*781_*790delinsGCCAGGGCGC
ENST00000623927.1:c.512_521delinsGCCAGGGCGC (CERS1)	ENSP00000485582.1:p.Gly171=
NM_001492.5:c.512_521delinsGCCAGGGCGC (GDF1)	NP_001483.3:p.Gly171=
NM_021267.4:c.*781_*790delinsGCCAGGGCGC (CERS1)	NP_067090.1:n.*781_*790delinsGCCAGGGCGC
NM_001492.6:c.512_521delinsGCCAGGGCGC (GDF1) MANE Select	NP_001483.3:p.Gly171=
NM_021267.5:c.*781_*790delinsGCCAGGGCGC (CERS1) MANE Select	NP_067090.1:n.*781_*790delinsGCCAGGGCGC
NM_001387438.1:c.512_521delinsGCCAGGGCGC (GDF1)	NP_001374367.1:p.Gly171=
NM_001387440.1:c.*1373_*1382delinsGCCAGGGCGC (CERS1)	NP_001374369.1:n.*1373_*1382delinsGCCAGGGCGC