Canonical Allele Identifier: CA2326567765

Gene: CERS1 GDF1

Linked Data

• dbSNP Id: rs2055913370

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869208_18869210del , CM000681.2:g.18869208_18869210del	GRCh38
NC_000019.9:g.18980017_18980019del , CM000681.1:g.18980017_18980019del	GRCh37
NC_000019.8:g.18841017_18841019del	NCBI36
NG_012070.1:g.31935_31937del
NG_033056.1:g.31935_31937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*775_*777del (CERS1) MANE Select	ENSP00000485308.1:n.*775_*777del
ENST00000247005.8:c.506_508del (GDF1) MANE Select	ENSP00000247005.5:p.Gln169_Ala170delinsPro
ENST00000247005.7:c.506_508del (GDF1)	ENSP00000247005.5:p.Gln169_Ala170delinsPro
ENST00000623882.3:c.*775_*777del (CERS1)	ENSP00000485308.1:n.*775_*777del
ENST00000623927.1:c.506_508del (CERS1)	ENSP00000485582.1:p.Gln169_Ala170delinsPro
NM_001492.5:c.506_508del (GDF1)	NP_001483.3:p.Gln169_Ala170delinsPro
NM_021267.4:c.*775_*777del (CERS1)	NP_067090.1:n.*775_*777del
NM_001492.6:c.506_508del (GDF1) MANE Select	NP_001483.3:p.Gln169_Ala170delinsPro
NM_021267.5:c.*775_*777del (CERS1) MANE Select	NP_067090.1:n.*775_*777del
NM_001387438.1:c.506_508del (GDF1)	NP_001374367.1:p.Gln169_Ala170delinsPro
NM_001387440.1:c.*1367_*1369del (CERS1)	NP_001374369.1:n.*1367_*1369del