Canonical Allele Identifier: CA2735826574

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs2145986416

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869251_18869252insCCC , CM000681.2:g.18869251_18869252insCCC	GRCh38
NC_000019.9:g.18980060_18980061insCCC , CM000681.1:g.18980060_18980061insCCC	GRCh37
NC_000019.8:g.18841060_18841061insCCC	NCBI36
NG_012070.1:g.31895_31896insGGG
NG_033056.1:g.31895_31896insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*735_*736insGGG (CERS1) MANE Select	ENSP00000485308.1:n.*735_*736insGGG
ENST00000247005.8:c.466_467insGGG (GDF1) MANE Select	ENSP00000247005.5:p.Ala155_Ala156insGly
ENST00000247005.7:c.466_467insGGG (GDF1)	ENSP00000247005.5:p.Ala155_Ala156insGly
ENST00000623882.3:c.*735_*736insGGG (CERS1)	ENSP00000485308.1:n.*735_*736insGGG
ENST00000623927.1:c.466_467insGGG (CERS1)	ENSP00000485582.1:p.Ala155_Ala156insGly
NM_001492.5:c.466_467insGGG (GDF1)	NP_001483.3:p.Ala155_Ala156insGly
NM_021267.4:c.*735_*736insGGG (CERS1)	NP_067090.1:n.*735_*736insGGG
NM_001492.6:c.466_467insGGG (GDF1) MANE Select	NP_001483.3:p.Ala155_Ala156insGly
NM_021267.5:c.*735_*736insGGG (CERS1) MANE Select	NP_067090.1:n.*735_*736insGGG
NM_001387438.1:c.466_467insGGG (GDF1)	NP_001374367.1:p.Ala155_Ala156insGly
NM_001387440.1:c.*1327_*1328insGGG (CERS1)	NP_001374369.1:n.*1327_*1328insGGG