Canonical Allele Identifier: CA1028815018
Gene: ALK HGNC NCBI

Linked Data

dbSNP Id: rs1669830804
gnomAD v3: 2-29222487-G-A
gnomAD v4: 2-29222487-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29222487G>A , CM000664.2:g.29222487G>A GRCh38
NC_000002.11:g.29445353G>A , CM000664.1:g.29445353G>A GRCh37
NC_000002.10:g.29298857G>A NCBI36
NG_009445.1:g.704080C>T , LRG_488:g.704080C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389048.8:c.3450+30C>T MANE Select ENSP00000373700.3:n.3450+30C>T
ENST00000431873.6:c.677+30C>T
ENST00000638605.1:n.327+30C>T
ENST00000642122.1:c.246+30C>T ENSP00000493203.1:n.246+30C>T
ENST00000389048.7:c.3450+30C>T ENSP00000373700.3:n.3450+30C>T
ENST00000431873.5:c.330+30C>T ENSP00000414027.2:n.330+30C>T
ENST00000453137.1:c.144+30C>T ENSP00000387488.1:n.144+30C>T
ENST00000618119.4:c.2319+30C>T ENSP00000482733.1:n.2319+30C>T
NM_004304.4:c.3450+30C>T NP_004295.2:n.3450+30C>T
NM_001353765.1:c.246+30C>T NP_001340694.1:n.246+30C>T
XM_024452778.1:c.603+30C>T XP_024308546.1:n.603+30C>T
XM_024452779.1:c.246+30C>T XP_024308547.1:n.246+30C>T
NM_004304.5:c.3450+30C>T MANE Select NP_004295.2:n.3450+30C>T
NM_001353765.2:c.246+30C>T NP_001340694.1:n.246+30C>T