Canonical Allele Identifier: CA9317902

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18868668_18868671del , CM000681.2:g.18868668_18868671del	GRCh38
NC_000019.9:g.18979477_18979480del , CM000681.1:g.18979477_18979480del	GRCh37
NC_000019.8:g.18840477_18840480del	NCBI36
NG_012070.1:g.32476_32479del
NG_033056.1:g.32476_32479del

Transcript Alleles

HGVS	Amino-acid Change
NM_001492.6:c.1047_1050del (GDF1) MANE Select	NP_001483.3:p.Phe349LeufsTer?
NM_021267.5:c.*1316_*1319del (CERS1) MANE Select	NP_067090.1:n.*1316_*1319del
ENST00000247005.8:c.1047_1050del (GDF1) MANE Select	ENSP00000247005.5:p.Phe349LeufsTer?
ENST00000623882.4:c.*1316_*1319del (CERS1) MANE Select	ENSP00000485308.1:n.*1316_*1319del
NM_001387438.1:c.1047_1050del (GDF1)	NP_001374367.1:p.Phe349LeufsTer?
NM_001387440.1:c.*1908_*1911del (CERS1)	NP_001374369.1:n.*1908_*1911del
NM_001492.5:c.1047_1050del (GDF1)	NP_001483.3:p.Phe349LeufsTer?
NM_021267.4:c.*1316_*1319del (CERS1)	NP_067090.1:n.*1316_*1319del
ENST00000247005.7:c.1047_1050del (GDF1)	ENSP00000247005.5:p.Phe349LeufsTer?
ENST00000623882.3:c.*1316_*1319del (CERS1)	ENSP00000485308.1:n.*1316_*1319del
ENST00000623927.1:c.1047_1050del (CERS1)	ENSP00000485582.1:p.Phe349LeufsTer?