Canonical Allele Identifier: CA632627044

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs1215790443
• gnomAD v2: 19-18979946-TG-T
• gnomAD v4: 19-18869137-TG-T
• MyVariant Identifiers: chr19:g.18979947del (hg19) ; chr19:g.18869138del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869139del , CM000681.2:g.18869139del	GRCh38
NC_000019.9:g.18979948del , CM000681.1:g.18979948del	GRCh37
NC_000019.8:g.18840948del	NCBI36
NG_012070.1:g.32007del
NG_033056.1:g.32007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*847del (CERS1) MANE Select	ENSP00000485308.1:n.*847del
ENST00000247005.8:c.578del (GDF1) MANE Select	ENSP00000247005.5:p.Pro193GlnfsTer?
ENST00000247005.7:c.578del (GDF1)	ENSP00000247005.5:p.Pro193GlnfsTer?
ENST00000623882.3:c.*847del (CERS1)	ENSP00000485308.1:n.*847del
ENST00000623927.1:c.578del (CERS1)	ENSP00000485582.1:p.Pro193GlnfsTer?
NM_001492.5:c.578del (GDF1)	NP_001483.3:p.Pro193GlnfsTer?
NM_021267.4:c.*847del (CERS1)	NP_067090.1:n.*847del
NM_001492.6:c.578del (GDF1) MANE Select	NP_001483.3:p.Pro193GlnfsTer?
NM_021267.5:c.*847del (CERS1) MANE Select	NP_067090.1:n.*847del
NM_001387438.1:c.578del (GDF1)	NP_001374367.1:p.Pro193GlnfsTer?
NM_001387440.1:c.*1439del (CERS1)	NP_001374369.1:n.*1439del