Canonical Allele Identifier: CA2583634733

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18868920-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868921del , CM000681.2:g.18868921del	GRCh38
NC_000019.9:g.18979730del , CM000681.1:g.18979730del	GRCh37
NC_000019.8:g.18840730del	NCBI36
NG_012070.1:g.32224del
NG_033056.1:g.32224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*1064del (CERS1) MANE Select	ENSP00000485308.1:n.*1064del
ENST00000247005.8:c.795del (GDF1) MANE Select	ENSP00000247005.5:p.Ala266LeufsTer9
ENST00000247005.7:c.795del (GDF1)	ENSP00000247005.5:p.Ala266LeufsTer9
ENST00000623882.3:c.*1064del (CERS1)	ENSP00000485308.1:n.*1064del
ENST00000623927.1:c.795del (CERS1)	ENSP00000485582.1:p.Ala266LeufsTer9
NM_001492.5:c.795del (GDF1)	NP_001483.3:p.Ala266LeufsTer9
NM_021267.4:c.*1064del (CERS1)	NP_067090.1:n.*1064del
NM_001492.6:c.795del (GDF1) MANE Select	NP_001483.3:p.Ala266LeufsTer9
NM_021267.5:c.*1064del (CERS1) MANE Select	NP_067090.1:n.*1064del
NM_001387438.1:c.795del (GDF1)	NP_001374367.1:p.Ala266LeufsTer9
NM_001387440.1:c.*1656del (CERS1)	NP_001374369.1:n.*1656del