Canonical Allele Identifier: CA2583634764
Gene: CERS1 HGNC NCBI
GDF1 HGNC NCBI

Linked Data

gnomAD v4: 19-18869125-CTCCGCGCGCACTGGCGGCCCCAGGGCGGGCACCAACTGGCGGAGCAGCACCGGCCCGGGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869133_18869192del , CM000681.2:g.18869133_18869192del GRCh38
NC_000019.9:g.18979942_18980001del , CM000681.1:g.18979942_18980001del GRCh37
NC_000019.8:g.18840942_18841001del NCBI36
NG_012070.1:g.31960_32019del
NG_033056.1:g.31960_32019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*800_*859del (CERS1) MANE Select ENSP00000485308.1:n.*800_*859del
ENST00000247005.8:c.531_590del (GDF1) MANE Select ENSP00000247005.5:p.Asp177_Ala196del
ENST00000247005.7:c.531_590del (GDF1) ENSP00000247005.5:p.Asp177_Ala196del
ENST00000623882.3:c.*800_*859del (CERS1) ENSP00000485308.1:n.*800_*859del
ENST00000623927.1:c.531_590del (CERS1) ENSP00000485582.1:p.Asp177_Ala196del
NM_001492.5:c.531_590del (GDF1) NP_001483.3:p.Asp177_Ala196del
NM_021267.4:c.*800_*859del (CERS1) NP_067090.1:n.*800_*859del
NM_001492.6:c.531_590del (GDF1) MANE Select NP_001483.3:p.Asp177_Ala196del
NM_021267.5:c.*800_*859del (CERS1) MANE Select NP_067090.1:n.*800_*859del
NM_001387438.1:c.531_590del (GDF1) NP_001374367.1:p.Asp177_Ala196del
NM_001387440.1:c.*1392_*1451del (CERS1) NP_001374369.1:n.*1392_*1451del
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