Canonical Allele Identifier: CA2583634777

Gene: CERS1 GDF1

Linked Data

• gnomAD v4: 19-18869176-CGGCCCGGGGTCCGCGCCCGCGCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869183_18869207del , CM000681.2:g.18869183_18869207del	GRCh38
NC_000019.9:g.18979992_18980016del , CM000681.1:g.18979992_18980016del	GRCh37
NC_000019.8:g.18840992_18841016del	NCBI36
NG_012070.1:g.31944_31968del
NG_033056.1:g.31944_31968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*784_*808del (CERS1) MANE Select	ENSP00000485308.1:n.*784_*808del
ENST00000247005.8:c.515_539del (GDF1) MANE Select	ENSP00000247005.5:p.Gln172ArgfsTer?
ENST00000247005.7:c.515_539del (GDF1)	ENSP00000247005.5:p.Gln172ArgfsTer?
ENST00000623882.3:c.*784_*808del (CERS1)	ENSP00000485308.1:n.*784_*808del
ENST00000623927.1:c.515_539del (CERS1)	ENSP00000485582.1:p.Gln172ArgfsTer?
NM_001492.5:c.515_539del (GDF1)	NP_001483.3:p.Gln172ArgfsTer?
NM_021267.4:c.*784_*808del (CERS1)	NP_067090.1:n.*784_*808del
NM_001492.6:c.515_539del (GDF1) MANE Select	NP_001483.3:p.Gln172ArgfsTer?
NM_021267.5:c.*784_*808del (CERS1) MANE Select	NP_067090.1:n.*784_*808del
NM_001387438.1:c.515_539del (GDF1)	NP_001374367.1:p.Gln172ArgfsTer?
NM_001387440.1:c.*1376_*1400del (CERS1)	NP_001374369.1:n.*1376_*1400del