Linked Data
ClinVar Variation Id:
418232
dbSNP Id:
rs1555702261
gnomAD v4:
19-18868914-GACAAGCGCCCCCGGGGCCGCCGCCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18868918_18868943del , CM000681.2:g.18868918_18868943del | GRCh38 |
| NC_000019.9:g.18979727_18979752del , CM000681.1:g.18979727_18979752del | GRCh37 |
| NC_000019.8:g.18840727_18840752del | NCBI36 |
| NG_012070.1:g.32205_32230del | |
| NG_033056.1:g.32205_32230del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623882.4:c.*1045_*1070del (CERS1) MANE Select | ENSP00000485308.1:n.*1045_*1070del | |
| ENST00000247005.8:c.776_801del (GDF1) MANE Select | ENSP00000247005.5:p.Leu259SerfsTer? | |
| ENST00000247005.7:c.776_801del (GDF1) | ENSP00000247005.5:p.Leu259SerfsTer? | |
| ENST00000623882.3:c.*1045_*1070del (CERS1) | ENSP00000485308.1:n.*1045_*1070del | |
| ENST00000623927.1:c.776_801del (CERS1) | ENSP00000485582.1:p.Leu259SerfsTer? | |
| NM_001492.5:c.776_801del (GDF1) | NP_001483.3:p.Leu259SerfsTer? | |
| NM_021267.4:c.*1045_*1070del (CERS1) | NP_067090.1:n.*1045_*1070del | |
| NM_001492.6:c.776_801del (GDF1) MANE Select | NP_001483.3:p.Leu259SerfsTer? | |
| NM_021267.5:c.*1045_*1070del (CERS1) MANE Select | NP_067090.1:n.*1045_*1070del | |
| NM_001387438.1:c.776_801del (GDF1) | NP_001374367.1:p.Leu259SerfsTer? | |
| NM_001387440.1:c.*1637_*1662del (CERS1) | NP_001374369.1:n.*1637_*1662del |