Revel Score:
ENST00000389048 (MANE Select)
0.070
ENST00000431873
0.070
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021761 (SAS)
Genomes Max Group AF
0.00028313 (SAS)
Exomes Max Group AF
0.0001917 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193251C>G , CM000664.2:g.29193251C>G | GRCh38 |
| NC_000002.11:g.29416117C>G , CM000664.1:g.29416117C>G | GRCh37 |
| NC_000002.10:g.29269621C>G | NCBI36 |
| NG_009445.1:g.733316G>C , LRG_488:g.733316G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3677C>G (CLIP4) | ENSP00000508948.1:n.1923-3677C>G | |
| ENST00000389048.8:c.4836G>C (ALK) MANE Select | ENSP00000373700.3:p.Lys1612Asn | |
| ENST00000431873.6:c.2063G>C (ALK) | ||
| ENST00000638605.1:n.1713G>C (ALK) | ||
| ENST00000642122.1:c.1632G>C (ALK) | ENSP00000493203.1:p.Lys544Asn | |
| ENST00000389048.7:c.4836G>C (ALK) | ENSP00000373700.3:p.Lys1612Asn | |
| ENST00000431873.5:c.1716G>C (ALK) | ENSP00000414027.2:p.Lys572Asn | |
| ENST00000618119.4:c.3705G>C (ALK) | ENSP00000482733.1:p.Lys1235Asn | |
| NM_004304.4:c.4836G>C (ALK) | NP_004295.2:p.Lys1612Asn | |
| NM_001353765.1:c.1632G>C (ALK) | NP_001340694.1:p.Lys544Asn | |
| XM_024452778.1:c.1989G>C (ALK) | XP_024308546.1:p.Lys663Asn | |
| XM_024452779.1:c.1632G>C (ALK) | XP_024308547.1:p.Lys544Asn | |
| NM_004304.5:c.4836G>C (ALK) MANE Select | NP_004295.2:p.Lys1612Asn | |
| NM_001353765.2:c.1632G>C (ALK) | NP_001340694.1:p.Lys544Asn |