Canonical Allele Identifier: CA632627051

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 1324461
• ClinVar RCV Id: RCV001782181
• dbSNP Id: rs2055908725
• gnomAD v2: 19-18979846-AGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACT-A
• gnomAD v3: 19-18869037-AGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACT-A
• gnomAD v4: 19-18869037-AGGCGGCAGGGGCCCGGGGGCGTAGCGCCAGCGCCAGGCGGAGGCTGCGCGGCCATGAGGCGTTGCGAGCCCAAGCGGCGCCCAGCAGCTCCGCGCGCACT-A
• MyVariant Identifiers: chr19:g.18979847_18979946del (hg19) ; chr19:g.18869038_18869137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869044_18869143del , CM000681.2:g.18869044_18869143del	GRCh38
NC_000019.9:g.18979853_18979952del , CM000681.1:g.18979853_18979952del	GRCh37
NC_000019.8:g.18840853_18840952del	NCBI36
NG_012070.1:g.32008_32107del
NG_033056.1:g.32008_32107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*848_*947del (CERS1) MANE Select	ENSP00000485308.1:n.*848_*947del
ENST00000247005.8:c.579_678del (GDF1) MANE Select	ENSP00000247005.5:p.Val194AlafsTer12
ENST00000247005.7:c.579_678del (GDF1)	ENSP00000247005.5:p.Val194AlafsTer12
ENST00000623882.3:c.*848_*947del (CERS1)	ENSP00000485308.1:n.*848_*947del
ENST00000623927.1:c.579_678del (CERS1)	ENSP00000485582.1:p.Val194AlafsTer12
NM_001492.5:c.579_678del (GDF1)	NP_001483.3:p.Val194AlafsTer12
NM_021267.4:c.*848_*947del (CERS1)	NP_067090.1:n.*848_*947del
NM_001492.6:c.579_678del (GDF1) MANE Select	NP_001483.3:p.Val194AlafsTer12
NM_021267.5:c.*848_*947del (CERS1) MANE Select	NP_067090.1:n.*848_*947del
NM_001387438.1:c.579_678del (GDF1)	NP_001374367.1:p.Val194AlafsTer12
NM_001387440.1:c.*1440_*1539del (CERS1)	NP_001374369.1:n.*1440_*1539del