Canonical Allele Identifier: CA2842543604

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869250_18869251insGGC , CM000681.2:g.18869250_18869251insGGC GRCh38
NC_000019.9:g.18980059_18980060insGGC , CM000681.1:g.18980059_18980060insGGC GRCh37
NC_000019.8:g.18841059_18841060insGGC NCBI36
NG_012070.1:g.31896_31897insCGC
NG_033056.1:g.31896_31897insCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*736_*737insCGC (CERS1) MANE Select ENSP00000485308.1:n.*736_*737insCGC
ENST00000247005.8:c.467_468insCGC (GDF1) MANE Select ENSP00000247005.5:p.Ala156_Ala157insAla
ENST00000247005.7:c.467_468insCGC (GDF1) ENSP00000247005.5:p.Ala156_Ala157insAla
ENST00000623882.3:c.*736_*737insCGC (CERS1) ENSP00000485308.1:n.*736_*737insCGC
ENST00000623927.1:c.467_468insCGC (CERS1) ENSP00000485582.1:p.Ala156_Ala157insAla
NM_001492.5:c.467_468insCGC (GDF1) NP_001483.3:p.Ala156_Ala157insAla
NM_021267.4:c.*736_*737insCGC (CERS1) NP_067090.1:n.*736_*737insCGC
NM_001492.6:c.467_468insCGC (GDF1) MANE Select NP_001483.3:p.Ala156_Ala157insAla
NM_021267.5:c.*736_*737insCGC (CERS1) MANE Select NP_067090.1:n.*736_*737insCGC
NM_001387438.1:c.467_468insCGC (GDF1) NP_001374367.1:p.Ala156_Ala157insAla
NM_001387440.1:c.*1328_*1329insCGC (CERS1) NP_001374369.1:n.*1328_*1329insCGC