Canonical Allele Identifier: CA2583634787

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869242-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869243_18869244dup , CM000681.2:g.18869243_18869244dup	GRCh38
NC_000019.9:g.18980052_18980053dup , CM000681.1:g.18980052_18980053dup	GRCh37
NC_000019.8:g.18841052_18841053dup	NCBI36
NG_012070.1:g.31901_31902dup
NG_033056.1:g.31901_31902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*741_*742dup (CERS1) MANE Select	ENSP00000485308.1:n.*741_*742dup
ENST00000247005.8:c.472_473dup (GDF1) MANE Select	ENSP00000247005.5:p.Glu160ArgfsTer7
ENST00000247005.7:c.472_473dup (GDF1)	ENSP00000247005.5:p.Glu160ArgfsTer7
ENST00000623882.3:c.*741_*742dup (CERS1)	ENSP00000485308.1:n.*741_*742dup
ENST00000623927.1:c.472_473dup (CERS1)	ENSP00000485582.1:p.Glu160ArgfsTer7
NM_001492.5:c.472_473dup (GDF1)	NP_001483.3:p.Glu160ArgfsTer7
NM_021267.4:c.*741_*742dup (CERS1)	NP_067090.1:n.*741_*742dup
NM_001492.6:c.472_473dup (GDF1) MANE Select	NP_001483.3:p.Glu160ArgfsTer7
NM_021267.5:c.*741_*742dup (CERS1) MANE Select	NP_067090.1:n.*741_*742dup
NM_001387438.1:c.472_473dup (GDF1)	NP_001374367.1:p.Glu160ArgfsTer7
NM_001387440.1:c.*1333_*1334dup (CERS1)	NP_001374369.1:n.*1333_*1334dup