Canonical Allele Identifier: CA2326567826

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs2055916554

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869308del , CM000681.2:g.18869308del	GRCh38
NC_000019.9:g.18980117del , CM000681.1:g.18980117del	GRCh37
NC_000019.8:g.18841117del	NCBI36
NG_012070.1:g.31838del
NG_033056.1:g.31838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*678del (CERS1) MANE Select	ENSP00000485308.1:n.*678del
ENST00000247005.8:c.409del (GDF1) MANE Select	ENSP00000247005.5:p.Glu137AsnfsTer29
ENST00000247005.7:c.409del (GDF1)	ENSP00000247005.5:p.Glu137AsnfsTer29
ENST00000623882.3:c.*678del (CERS1)	ENSP00000485308.1:n.*678del
ENST00000623927.1:c.409del (CERS1)	ENSP00000485582.1:p.Glu137AsnfsTer29
NM_001492.5:c.409del (GDF1)	NP_001483.3:p.Glu137AsnfsTer29
NM_021267.4:c.*678del (CERS1)	NP_067090.1:n.*678del
NM_001492.6:c.409del (GDF1) MANE Select	NP_001483.3:p.Glu137AsnfsTer29
NM_021267.5:c.*678del (CERS1) MANE Select	NP_067090.1:n.*678del
NM_001387438.1:c.409del (GDF1)	NP_001374367.1:p.Glu137AsnfsTer29
NM_001387440.1:c.*1270del (CERS1)	NP_001374369.1:n.*1270del