Canonical Allele Identifier: CA2583634784
Gene: CERS1 HGNC NCBI
GDF1 HGNC NCBI

Linked Data

gnomAD v4: 19-18869232-CG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869233del , CM000681.2:g.18869233del GRCh38
NC_000019.9:g.18980042del , CM000681.1:g.18980042del GRCh37
NC_000019.8:g.18841042del NCBI36
NG_012070.1:g.31912del
NG_033056.1:g.31912del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*752del (CERS1) MANE Select ENSP00000485308.1:n.*752del
ENST00000247005.8:c.483del (GDF1) MANE Select ENSP00000247005.5:p.Gly162AlafsTer4
ENST00000247005.7:c.483del (GDF1) ENSP00000247005.5:p.Gly162AlafsTer4
ENST00000623882.3:c.*752del (CERS1) ENSP00000485308.1:n.*752del
ENST00000623927.1:c.483del (CERS1) ENSP00000485582.1:p.Gly162AlafsTer4
NM_001492.5:c.483del (GDF1) NP_001483.3:p.Gly162AlafsTer4
NM_021267.4:c.*752del (CERS1) NP_067090.1:n.*752del
NM_001492.6:c.483del (GDF1) MANE Select NP_001483.3:p.Gly162AlafsTer4
NM_021267.5:c.*752del (CERS1) MANE Select NP_067090.1:n.*752del
NM_001387438.1:c.483del (GDF1) NP_001374367.1:p.Gly162AlafsTer4
NM_001387440.1:c.*1344del (CERS1) NP_001374369.1:n.*1344del
Search 100 bp 5'
Search 100 bp 3'