Canonical Allele Identifier: CA2326567825

Gene: CERS1 GDF1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18869306_18869307delinsTC , CM000681.2:g.18869306_18869307delinsTC	GRCh38
NC_000019.9:g.18980115_18980116delinsTC , CM000681.1:g.18980115_18980116delinsTC	GRCh37
NC_000019.8:g.18841115_18841116delinsTC	NCBI36
NG_012070.1:g.31838_31839delinsGA
NG_033056.1:g.31838_31839delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623882.4:c.*678_*679delinsGA (CERS1) MANE Select	ENSP00000485308.1:n.*678_*679delinsGA
ENST00000247005.8:c.409_410delinsGA (GDF1) MANE Select	ENSP00000247005.5:p.Glu137=
ENST00000247005.7:c.409_410delinsGA (GDF1)	ENSP00000247005.5:p.Glu137=
ENST00000623882.3:c.*678_*679delinsGA (CERS1)	ENSP00000485308.1:n.*678_*679delinsGA
ENST00000623927.1:c.409_410delinsGA (CERS1)	ENSP00000485582.1:p.Glu137=
NM_001492.5:c.409_410delinsGA (GDF1)	NP_001483.3:p.Glu137=
NM_021267.4:c.*678_*679delinsGA (CERS1)	NP_067090.1:n.*678_*679delinsGA
NM_001492.6:c.409_410delinsGA (GDF1) MANE Select	NP_001483.3:p.Glu137=
NM_021267.5:c.*678_*679delinsGA (CERS1) MANE Select	NP_067090.1:n.*678_*679delinsGA
NM_001387438.1:c.409_410delinsGA (GDF1)	NP_001374367.1:p.Glu137=
NM_001387440.1:c.*1270_*1271delinsGA (CERS1)	NP_001374369.1:n.*1270_*1271delinsGA