Canonical Allele Identifier: CA1594044
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29223539G>A
GRCh37 chr2:g.29446405G>A
gnomAD v2:
2:29446405 G / A
gnomAD v3:
2:29223539 G / A
gnomAD v4:
chr2-29223539-G-A
Joint Max Group AF 0.0005397 (NFE)
Genomes Max Group AF 0.00015868 (NFE)
Exomes Max Group AF 0.0005584 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29223539G>A , CM000664.2:g.29223539G>A GRCh38
NC_000002.11:g.29446405G>A , CM000664.1:g.29446405G>A GRCh37
NC_000002.10:g.29299909G>A NCBI36
NG_009445.1:g.703028C>T , LRG_488:g.703028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3173-11C>T MANE Select ENSP00000373700.3:n.3173-11C>T
ENST00000431873.6:c.400-11C>T
ENST00000638605.1:n.50-11C>T
ENST00000642122.1:c.-43C>T ENSP00000493203.1:n.-43C>T
ENST00000389048.7:c.3173-11C>T ENSP00000373700.3:n.3173-11C>T
ENST00000431873.5:c.53-11C>T ENSP00000414027.2:n.53-11C>T
ENST00000618119.4:c.2042-11C>T ENSP00000482733.1:n.2042-11C>T
NM_004304.4:c.3173-11C>T NP_004295.2:n.3173-11C>T
NM_001353765.1:c.-43C>T NP_001340694.1:n.-43C>T
XM_024452778.1:c.326-11C>T XP_024308546.1:n.326-11C>T
XM_024452779.1:c.-43C>T XP_024308547.1:n.-43C>T
XR_001738688.2:n.4029-11C>T
NM_004304.5:c.3173-11C>T MANE Select NP_004295.2:n.3173-11C>T
NM_001353765.2:c.-43C>T NP_001340694.1:n.-43C>T
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