Linked Data
dbSNP Id:
rs1370340620
gnomAD v3:
5-34007522-G-GGGAA
gnomAD v4:
5-34007522-G-GGGAA
MyVariant Identifiers:
chr5:g.34007627_34007628insGGAA (hg19)
chr5:g.34007522_34007523insGGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34007526_34007529dup , CM000667.2:g.34007526_34007529dup | GRCh38 |
| NC_000005.9:g.34007631_34007634dup , CM000667.1:g.34007631_34007634dup | GRCh37 |
| NC_000005.8:g.34043388_34043391dup | NCBI36 |
| NG_016211.1:g.5590_5593dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335606.11:c.247+247_247+250dup (AMACR) MANE Select | ENSP00000334424.6:n.247+247_247+250dup | |
| ENST00000335606.10:c.247+247_247+250dup (AMACR) | ENSP00000334424.6:n.247+247_247+250dup | |
| ENST00000382068.3:c.247+247_247+250dup (AMACR) | ENSP00000477108.1:n.247+247_247+250dup | |
| ENST00000382072.6:c.247+247_247+250dup (AMACR) | ENSP00000371504.2:n.247+247_247+250dup | |
| ENST00000382079.3:c.690-1627_690-1624dup (C1QTNF3-AMACR) | ENSP00000371511.3:n.690-1627_690-1624dup | |
| ENST00000382085.7:c.247+247_247+250dup (AMACR) | ENSP00000371517.3:n.247+247_247+250dup | |
| ENST00000426255.6:c.247+247_247+250dup (AMACR) | ENSP00000476965.1:n.247+247_247+250dup | |
| ENST00000502637.5:c.247+247_247+250dup (AMACR) | ENSP00000424351.1:n.247+247_247+250dup | |
| ENST00000506639.5:c.247+247_247+250dup (AMACR) | ENSP00000427227.1:n.247+247_247+250dup | |
| ENST00000512079.5:c.247+247_247+250dup (AMACR) | ENSP00000477411.1:n.247+247_247+250dup | |
| ENST00000514195.1:n.259+247_259+250dup (AMACR) | ||
| NM_001167595.1:c.247+247_247+250dup (AMACR) | NP_001161067.1:n.247+247_247+250dup | |
| NM_014324.5:c.247+247_247+250dup (AMACR) | NP_055139.4:n.247+247_247+250dup | |
| NM_203382.2:c.247+247_247+250dup (AMACR) | NP_976316.1:n.247+247_247+250dup | |
| NR_037951.1:n.765-1627_765-1624dup (C1QTNF3-AMACR) | ||
| NM_014324.6:c.247+247_247+250dup (AMACR) MANE Select | NP_055139.4:n.247+247_247+250dup | |
| NM_001167595.2:c.247+247_247+250dup (AMACR) | NP_001161067.1:n.247+247_247+250dup | |
| NM_203382.3:c.247+247_247+250dup (AMACR) | NP_976316.1:n.247+247_247+250dup |