Canonical Allele Identifier: CA2499225424

Gene: CERS1 GDF1

Linked Data

• ClinVar Variation Id: 1265804
• ClinVar RCV Id: RCV001675100
• dbSNP Id: rs2145986398

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869247_18869248insGCC , CM000681.2:g.18869247_18869248insGCC	GRCh38
NC_000019.9:g.18980056_18980057insGCC , CM000681.1:g.18980056_18980057insGCC	GRCh37
NC_000019.8:g.18841056_18841057insGCC	NCBI36
NG_012070.1:g.31898_31899insGCG
NG_033056.1:g.31898_31899insGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*738_*739insGCG (CERS1) MANE Select	ENSP00000485308.1:n.*738_*739insGCG
ENST00000247005.8:c.469_470insGCG (GDF1) MANE Select	ENSP00000247005.5:p.Ala156_Ala157insGly
ENST00000247005.7:c.469_470insGCG (GDF1)	ENSP00000247005.5:p.Ala156_Ala157insGly
ENST00000623882.3:c.*738_*739insGCG (CERS1)	ENSP00000485308.1:n.*738_*739insGCG
ENST00000623927.1:c.469_470insGCG (CERS1)	ENSP00000485582.1:p.Ala156_Ala157insGly
NM_001492.5:c.469_470insGCG (GDF1)	NP_001483.3:p.Ala156_Ala157insGly
NM_021267.4:c.*738_*739insGCG (CERS1)	NP_067090.1:n.*738_*739insGCG
NM_001492.6:c.469_470insGCG (GDF1) MANE Select	NP_001483.3:p.Ala156_Ala157insGly
NM_021267.5:c.*738_*739insGCG (CERS1) MANE Select	NP_067090.1:n.*738_*739insGCG
NM_001387438.1:c.469_470insGCG (GDF1)	NP_001374367.1:p.Ala156_Ala157insGly
NM_001387440.1:c.*1330_*1331insGCG (CERS1)	NP_001374369.1:n.*1330_*1331insGCG