ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33998777_33998778delinsTG , CM000667.2:g.33998777_33998778delinsTG | GRCh38 |
| NC_000005.9:g.33998882_33998883delinsTG , CM000667.1:g.33998882_33998883delinsTG | GRCh37 |
| NC_000005.8:g.34034639_34034640delinsTG | NCBI36 |
| NG_016211.1:g.14338_14339delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.602_603delinsCA (AMACR) MANE Select | ENSP00000334424.6:p.Leu201Ser | |
| ENST00000335606.10:c.602_603delinsCA (AMACR) | ENSP00000334424.6:p.Leu201Ser | |
| ENST00000382068.3:c.441_442delinsCA (AMACR) | ENSP00000477108.1:p.Glu148Lys | |
| ENST00000382072.6:c.441_442delinsCA (AMACR) | ENSP00000371504.2:p.Glu148Lys | |
| ENST00000382079.3:c.*28_*29delinsCA (C1QTNF3-AMACR) | ENSP00000371511.3:n.*28_*29delinsCA | |
| ENST00000382085.7:c.602_603delinsCA (AMACR) | ENSP00000371517.3:p.Leu201Ser | |
| ENST00000426255.6:c.602_603delinsCA (AMACR) | ENSP00000476965.1:p.Leu201Ser | |
| ENST00000502637.5:c.557_558delinsCA (AMACR) | ENSP00000424351.1:p.Leu186Ser | |
| ENST00000506639.5:c.441_442delinsCA (AMACR) | ENSP00000427227.1:p.Glu148Lys | |
| ENST00000512079.5:c.602_603delinsCA (AMACR) | ENSP00000477411.1:p.Leu201Ser | |
| ENST00000514195.1:n.453_454delinsCA (AMACR) | ||
| NM_001167595.1:c.602_603delinsCA (AMACR) | NP_001161067.1:p.Leu201Ser | |
| NM_014324.5:c.602_603delinsCA (AMACR) | NP_055139.4:p.Leu201Ser | |
| NM_203382.2:c.441_442delinsCA (AMACR) | NP_976316.1:p.Glu148Lys | |
| NR_037951.1:n.958_959delinsCA (C1QTNF3-AMACR) | ||
| NM_014324.6:c.602_603delinsCA (AMACR) MANE Select | NP_055139.4:p.Leu201Ser | |
| NM_001167595.2:c.602_603delinsCA (AMACR) | NP_001161067.1:p.Leu201Ser | |
| NM_203382.3:c.441_442delinsCA (AMACR) | NP_976316.1:p.Glu148Lys |