Canonical Allele Identifier: CA2697556433

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 2687842
• ClinVar RCV Id: RCV003488807

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868895_18868950del , CM000681.2:g.18868895_18868950del	GRCh38
NC_000019.9:g.18979704_18979759del , CM000681.1:g.18979704_18979759del	GRCh37
NC_000019.8:g.18840704_18840759del	NCBI36
NG_012070.1:g.32197_32252del
NG_033056.1:g.32197_32252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1037_*1092del (CERS1) MANE Select	ENSP00000485308.1:n.*1037_*1092del
ENST00000247005.8:c.768_823del (GDF1) MANE Select	ENSP00000247005.5:p.Pro257LeufsTer?
ENST00000247005.7:c.768_823del (GDF1)	ENSP00000247005.5:p.Pro257LeufsTer?
ENST00000623882.3:c.*1037_*1092del (CERS1)	ENSP00000485308.1:n.*1037_*1092del
ENST00000623927.1:c.768_823del (CERS1)	ENSP00000485582.1:p.Pro257LeufsTer?
NM_001492.5:c.768_823del (GDF1)	NP_001483.3:p.Pro257LeufsTer?
NM_021267.4:c.*1037_*1092del (CERS1)	NP_067090.1:n.*1037_*1092del
NM_001492.6:c.768_823del (GDF1) MANE Select	NP_001483.3:p.Pro257LeufsTer?
NM_021267.5:c.*1037_*1092del (CERS1) MANE Select	NP_067090.1:n.*1037_*1092del
NM_001387438.1:c.768_823del (GDF1)	NP_001374367.1:p.Pro257LeufsTer?
NM_001387440.1:c.*1629_*1684del (CERS1)	NP_001374369.1:n.*1629_*1684del