Canonical Allele Identifier: CA425435490
Gene: ALK HGNC NCBI

Linked Data

dbSNP Id: rs1379124826
gnomAD v2: 2-29445030-T-G
gnomAD v3: 2-29222164-T-G
gnomAD v4: 2-29222164-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29222164T>G , CM000664.2:g.29222164T>G GRCh38
NC_000002.11:g.29445030T>G , CM000664.1:g.29445030T>G GRCh37
NC_000002.10:g.29298534T>G NCBI36
NG_009445.1:g.704403A>C , LRG_488:g.704403A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3515+180A>C MANE Select ENSP00000373700.3:n.3515+180A>C
ENST00000431873.6:c.742+180A>C
ENST00000638605.1:n.392+180A>C
ENST00000642122.1:c.311+180A>C ENSP00000493203.1:n.311+180A>C
ENST00000389048.7:c.3515+180A>C ENSP00000373700.3:n.3515+180A>C
ENST00000431873.5:c.395+180A>C ENSP00000414027.2:n.395+180A>C
ENST00000453137.1:c.209+180A>C ENSP00000387488.1:n.209+180A>C
ENST00000618119.4:c.2384+180A>C ENSP00000482733.1:n.2384+180A>C
NM_004304.4:c.3515+180A>C NP_004295.2:n.3515+180A>C
NM_001353765.1:c.311+180A>C NP_001340694.1:n.311+180A>C
XM_024452778.1:c.668+180A>C XP_024308546.1:n.668+180A>C
XM_024452779.1:c.311+180A>C XP_024308547.1:n.311+180A>C
NM_004304.5:c.3515+180A>C MANE Select NP_004295.2:n.3515+180A>C
NM_001353765.2:c.311+180A>C NP_001340694.1:n.311+180A>C