Canonical Allele Identifier: CA2583634779
Gene: CERS1 HGNC NCBI
GDF1 HGNC NCBI

Linked Data

gnomAD v4: 19-18869181-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869185del , CM000681.2:g.18869185del GRCh38
NC_000019.9:g.18979994del , CM000681.1:g.18979994del GRCh37
NC_000019.8:g.18840994del NCBI36
NG_012070.1:g.31963del
NG_033056.1:g.31963del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*803del (CERS1) MANE Select ENSP00000485308.1:n.*803del
ENST00000247005.8:c.534del (GDF1) MANE Select ENSP00000247005.5:p.Pro180ArgfsTer?
ENST00000247005.7:c.534del (GDF1) ENSP00000247005.5:p.Pro180ArgfsTer?
ENST00000623882.3:c.*803del (CERS1) ENSP00000485308.1:n.*803del
ENST00000623927.1:c.534del (CERS1) ENSP00000485582.1:p.Pro180ArgfsTer?
NM_001492.5:c.534del (GDF1) NP_001483.3:p.Pro180ArgfsTer?
NM_021267.4:c.*803del (CERS1) NP_067090.1:n.*803del
NM_001492.6:c.534del (GDF1) MANE Select NP_001483.3:p.Pro180ArgfsTer?
NM_021267.5:c.*803del (CERS1) MANE Select NP_067090.1:n.*803del
NM_001387438.1:c.534del (GDF1) NP_001374367.1:p.Pro180ArgfsTer?
NM_001387440.1:c.*1395del (CERS1) NP_001374369.1:n.*1395del
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