Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848093_35848094del , CM000681.2:g.35848093_35848094del | GRCh38 |
| NC_000019.9:g.36338995_36338996del , CM000681.1:g.36338995_36338996del | GRCh37 |
| NC_000019.8:g.41030835_41030836del | NCBI36 |
| NG_013356.2:g.26194_26195del , LRG_693:g.26194_26195del | |
| NG_051206.1:g.1459_1460del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1387_1388del MANE Select | ENSP00000368190.4:p.Leu463GlyfsTer? | |
| ENST00000353632.6:c.1387_1388del | ENSP00000343634.5:p.Leu463GlyfsTer? | |
| ENST00000378910.9:c.1387_1388del | ENSP00000368190.4:p.Leu463GlyfsTer? | |
| ENST00000592132.1:n.394_395del | ||
| NM_004646.3:c.1387_1388del , LRG_693t1:c.1387_1388del | NP_004637.1:p.Leu463GlyfsTer? | |
| NM_004646.4:c.1387_1388del MANE Select | NP_004637.1:p.Leu463GlyfsTer? |