Canonical Allele Identifier: CA2326567851

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869342_18869365delinsGGGCAATGCCCCGCGGCCGAGGCA , CM000681.2:g.18869342_18869365delinsGGGCAATGCCCCGCGGCCGAGGCA	GRCh38
NC_000019.9:g.18980151_18980174delinsGGGCAATGCCCCGCGGCCGAGGCA , CM000681.1:g.18980151_18980174delinsGGGCAATGCCCCGCGGCCGAGGCA	GRCh37
NC_000019.8:g.18841151_18841174delinsGGGCAATGCCCCGCGGCCGAGGCA	NCBI36
NG_012070.1:g.31780_31803delinsTGCCTCGGCCGCGGGGCATTGCCC
NG_033056.1:g.31780_31803delinsTGCCTCGGCCGCGGGGCATTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC (CERS1) MANE Select	ENSP00000485308.1:n.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC
ENST00000247005.8:c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (GDF1) MANE Select	ENSP00000247005.5:p.Pro117=
ENST00000247005.7:c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (GDF1)	ENSP00000247005.5:p.Pro117=
ENST00000623882.3:c.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC (CERS1)	ENSP00000485308.1:n.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC
ENST00000623927.1:c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (CERS1)	ENSP00000485582.1:p.Pro117=
NM_001492.5:c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (GDF1)	NP_001483.3:p.Pro117=
NM_021267.4:c.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC (CERS1)	NP_067090.1:n.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC
NM_001492.6:c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (GDF1) MANE Select	NP_001483.3:p.Pro117=
NM_021267.5:c.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC (CERS1) MANE Select	NP_067090.1:n.*620_*643delinsTGCCTCGGCCGCGGGGCATTGCCC
NM_001387438.1:c.351_374delinsTGCCTCGGCCGCGGGGCATTGCCC (GDF1)	NP_001374367.1:p.Pro117=
NM_001387440.1:c.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC (CERS1)	NP_001374369.1:n.*1212_*1235delinsTGCCTCGGCCGCGGGGCATTGCCC