Canonical Allele Identifier: CA632627045

Gene: CERS1 GDF1

Linked Data

• gnomAD v2: 19-18979951-GCC-G
• gnomAD v4: 19-18869142-GCC-G
• MyVariant Identifiers: chr19:g.18979952_18979953del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869145_18869146del , CM000681.2:g.18869145_18869146del	GRCh38
NC_000019.9:g.18979954_18979955del , CM000681.1:g.18979954_18979955del	GRCh37
NC_000019.8:g.18840954_18840955del	NCBI36
NG_012070.1:g.32001_32002del
NG_033056.1:g.32001_32002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*841_*842del (CERS1) MANE Select	ENSP00000485308.1:n.*841_*842del
ENST00000247005.8:c.572_573del (GDF1) MANE Select	ENSP00000247005.5:p.Gly191AlafsTer?
ENST00000247005.7:c.572_573del (GDF1)	ENSP00000247005.5:p.Gly191AlafsTer?
ENST00000623882.3:c.*841_*842del (CERS1)	ENSP00000485308.1:n.*841_*842del
ENST00000623927.1:c.572_573del (CERS1)	ENSP00000485582.1:p.Gly191AlafsTer?
NM_001492.5:c.572_573del (GDF1)	NP_001483.3:p.Gly191AlafsTer?
NM_021267.4:c.*841_*842del (CERS1)	NP_067090.1:n.*841_*842del
NM_001492.6:c.572_573del (GDF1) MANE Select	NP_001483.3:p.Gly191AlafsTer?
NM_021267.5:c.*841_*842del (CERS1) MANE Select	NP_067090.1:n.*841_*842del
NM_001387438.1:c.572_573del (GDF1)	NP_001374367.1:p.Gly191AlafsTer?
NM_001387440.1:c.*1433_*1434del (CERS1)	NP_001374369.1:n.*1433_*1434del