Canonical Allele Identifier: CA1594071
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29225518C>T
GRCh38 chr2:g.29225518_29225522delinsTAGAG
GRCh37 chr2:g.29448384C>T
GRCh37 chr2:g.29448384_29448388delinsTAGAG
Revel Score:
ENST00000389048 (MANE Select) 0.541
gnomAD v2:
2:29448384 C / T
gnomAD v3:
2:29225518 C / T
gnomAD v4:
chr2-29225518-C-T
Joint Max Group AF 0.00011645 (NFE)
Genomes Max Group AF 0.00006805 (NFE)
Exomes Max Group AF 0.0001163 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29225518C>T , CM000664.2:g.29225518C>T GRCh38
NC_000002.11:g.29448384C>T , CM000664.1:g.29448384C>T GRCh37
NC_000002.10:g.29301888C>T NCBI36
NG_009445.1:g.701049G>A , LRG_488:g.701049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3115G>A MANE Select ENSP00000373700.3:p.Val1039Met
ENST00000431873.6:c.281G>A
ENST00000389048.7:c.3115G>A ENSP00000373700.3:p.Val1039Met
ENST00000618119.4:c.1984G>A ENSP00000482733.1:p.Val662Met
NM_004304.4:c.3115G>A NP_004295.2:p.Val1039Met
XM_024452778.1:c.268G>A XP_024308546.1:p.Val90Met
XM_024452779.1:c.-1240G>A XP_024308547.1:n.-1240G>A
XR_001738688.2:n.3971G>A
NM_004304.5:c.3115G>A MANE Select NP_004295.2:p.Val1039Met
Search 100 bp 5'
Search 100 bp 3'