Canonical Allele Identifier: CA9317926

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs571387097
• ExAC: 19:18980054 TGCC / T
• gnomAD v2: 19-18980054-TGCC-T
• gnomAD v3: 19-18869245-TGCC-T
• gnomAD v4: 19-18869245-TGCC-T
• MyVariant Identifiers: chr19:g.18980061_18980063del (hg19) ; chr19:g.18980055_18980057del (hg19) ; chr19:g.18869252_18869254del (hg38) ; chr19:g.18869246_18869248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869260_18869262del , CM000681.2:g.18869260_18869262del	GRCh38
NC_000019.9:g.18980069_18980071del , CM000681.1:g.18980069_18980071del	GRCh37
NC_000019.8:g.18841069_18841071del	NCBI36
NG_012070.1:g.31897_31899del
NG_033056.1:g.31897_31899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*737_*739del (CERS1) MANE Select	ENSP00000485308.1:n.*737_*739del
ENST00000247005.8:c.468_470del (GDF1) MANE Select	ENSP00000247005.5:p.Ala157del
ENST00000247005.7:c.468_470del (GDF1)	ENSP00000247005.5:p.Ala157del
ENST00000623882.3:c.*737_*739del (CERS1)	ENSP00000485308.1:n.*737_*739del
ENST00000623927.1:c.468_470del (CERS1)	ENSP00000485582.1:p.Ala157del
NM_001492.5:c.468_470del (GDF1)	NP_001483.3:p.Ala157del
NM_021267.4:c.*737_*739del (CERS1)	NP_067090.1:n.*737_*739del
NM_001492.6:c.468_470del (GDF1) MANE Select	NP_001483.3:p.Ala157del
NM_021267.5:c.*737_*739del (CERS1) MANE Select	NP_067090.1:n.*737_*739del
NM_001387438.1:c.468_470del (GDF1)	NP_001374367.1:p.Ala157del
NM_001387440.1:c.*1329_*1331del (CERS1)	NP_001374369.1:n.*1329_*1331del