Canonical Allele Identifier: CA2583634783
Gene: CERS1 HGNC NCBI
GDF1 HGNC NCBI

Linked Data

gnomAD v4: 19-18869203-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869206del , CM000681.2:g.18869206del GRCh38
NC_000019.9:g.18980015del , CM000681.1:g.18980015del GRCh37
NC_000019.8:g.18841015del NCBI36
NG_012070.1:g.31941del
NG_033056.1:g.31941del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*781del (CERS1) MANE Select ENSP00000485308.1:n.*781del
ENST00000247005.8:c.512del (GDF1) MANE Select ENSP00000247005.5:p.Gly171AlafsTer?
ENST00000247005.7:c.512del (GDF1) ENSP00000247005.5:p.Gly171AlafsTer?
ENST00000623882.3:c.*781del (CERS1) ENSP00000485308.1:n.*781del
ENST00000623927.1:c.512del (CERS1) ENSP00000485582.1:p.Gly171AlafsTer?
NM_001492.5:c.512del (GDF1) NP_001483.3:p.Gly171AlafsTer?
NM_021267.4:c.*781del (CERS1) NP_067090.1:n.*781del
NM_001492.6:c.512del (GDF1) MANE Select NP_001483.3:p.Gly171AlafsTer?
NM_021267.5:c.*781del (CERS1) MANE Select NP_067090.1:n.*781del
NM_001387438.1:c.512del (GDF1) NP_001374367.1:p.Gly171AlafsTer?
NM_001387440.1:c.*1373del (CERS1) NP_001374369.1:n.*1373del
Search 100 bp 5'
Search 100 bp 3'