Canonical Allele Identifier: CA2583634770

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869146-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869147dup , CM000681.2:g.18869147dup	GRCh38
NC_000019.9:g.18979956dup , CM000681.1:g.18979956dup	GRCh37
NC_000019.8:g.18840956dup	NCBI36
NG_012070.1:g.31998dup
NG_033056.1:g.31998dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*838dup (CERS1) MANE Select	ENSP00000485308.1:n.*838dup
ENST00000247005.8:c.569dup (GDF1) MANE Select	ENSP00000247005.5:p.Pro192AlafsTer?
ENST00000247005.7:c.569dup (GDF1)	ENSP00000247005.5:p.Pro192AlafsTer?
ENST00000623882.3:c.*838dup (CERS1)	ENSP00000485308.1:n.*838dup
ENST00000623927.1:c.569dup (CERS1)	ENSP00000485582.1:p.Pro192AlafsTer?
NM_001492.5:c.569dup (GDF1)	NP_001483.3:p.Pro192AlafsTer?
NM_021267.4:c.*838dup (CERS1)	NP_067090.1:n.*838dup
NM_001492.6:c.569dup (GDF1) MANE Select	NP_001483.3:p.Pro192AlafsTer?
NM_021267.5:c.*838dup (CERS1) MANE Select	NP_067090.1:n.*838dup
NM_001387438.1:c.569dup (GDF1)	NP_001374367.1:p.Pro192AlafsTer?
NM_001387440.1:c.*1430dup (CERS1)	NP_001374369.1:n.*1430dup