Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848091_35848092insA , CM000681.2:g.35848091_35848092insA | GRCh38 |
| NC_000019.9:g.36338993_36338994insA , CM000681.1:g.36338993_36338994insA | GRCh37 |
| NC_000019.8:g.41030833_41030834insA | NCBI36 |
| NG_013356.2:g.26196_26197insT , LRG_693:g.26196_26197insT | |
| NG_051206.1:g.1457_1458insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1389_1390insT MANE Select | ENSP00000368190.4:p.Val464CysfsTer? | |
| ENST00000353632.6:c.1389_1390insT | ENSP00000343634.5:p.Val464CysfsTer? | |
| ENST00000378910.9:c.1389_1390insT | ENSP00000368190.4:p.Val464CysfsTer? | |
| ENST00000592132.1:n.396_397insT | ||
| NM_004646.3:c.1389_1390insT , LRG_693t1:c.1389_1390insT | NP_004637.1:p.Val464CysfsTer? | |
| NM_004646.4:c.1389_1390insT MANE Select | NP_004637.1:p.Val464CysfsTer? |