Canonical Allele Identifier: CA1593835

Gene: ALK

Linked Data

• ClinVar Variation Id: 566791
• ClinVar RCV Id: RCV000686703
• dbSNP Id: rs780363656
• ExAC: 2:29443562 TCTCA / T
• gnomAD v2: 2-29443562-TCTCA-T
• gnomAD v4: 2-29220696-TCTCA-T
• MyVariant Identifiers: chr2:g.29443563_29443566del (hg19) ; chr2:g.29220697_29220700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220702_29220705del , CM000664.2:g.29220702_29220705del	GRCh38
NC_000002.11:g.29443568_29443571del , CM000664.1:g.29443568_29443571del	GRCh37
NC_000002.10:g.29297072_29297075del	NCBI36
NG_009445.1:g.705867_705870del , LRG_488:g.705867_705870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3645+6_3645+9del MANE Select	ENSP00000373700.3:n.3645+6_3645+9del
ENST00000431873.6:c.872+6_872+9del
ENST00000638605.1:n.522+6_522+9del
ENST00000642122.1:c.441+6_441+9del	ENSP00000493203.1:n.441+6_441+9del
ENST00000389048.7:c.3645+6_3645+9del	ENSP00000373700.3:n.3645+6_3645+9del
ENST00000431873.5:c.525+6_525+9del	ENSP00000414027.2:n.525+6_525+9del
ENST00000618119.4:c.2514+6_2514+9del	ENSP00000482733.1:n.2514+6_2514+9del
NM_004304.4:c.3645+6_3645+9del	NP_004295.2:n.3645+6_3645+9del
NM_001353765.1:c.441+6_441+9del	NP_001340694.1:n.441+6_441+9del
XM_024452778.1:c.798+6_798+9del	XP_024308546.1:n.798+6_798+9del
XM_024452779.1:c.441+6_441+9del	XP_024308547.1:n.441+6_441+9del
NM_004304.5:c.3645+6_3645+9del MANE Select	NP_004295.2:n.3645+6_3645+9del
NM_001353765.2:c.441+6_441+9del	NP_001340694.1:n.441+6_441+9del