Canonical Allele Identifier: CA249051

Gene: ZSWIM6

Linked Data

• ClinVar Variation Id: 437395
• ClinVar RCV Id: RCV000500002 ; RCV001707712
• dbSNP Id: rs528020839
• ExAC: 5:60628181 A / AGCG
• gnomAD v2: 5-60628181-A-AGCG
• gnomAD v3: 5-61332354-A-AGCG
• gnomAD v4: 5-61332354-A-AGCG
• COSMIC: COSM5446152
• MyVariant Identifiers: chr5:g.60628197_60628199dup (hg19) ; chr5:g.60628187_60628188insGCG (hg19) ; chr5:g.60628184_60628185insGCG (hg19) ; chr5:g.60628181_60628182insGCG (hg19) ; chr5:g.61332370_61332372dup (hg38) ; chr5:g.61332360_61332361insGCG (hg38) ; chr5:g.61332357_61332358insGCG (hg38) ; chr5:g.61332354_61332355insGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.61332370_61332372dup , CM000667.2:g.61332370_61332372dup	GRCh38
NC_000005.9:g.60628197_60628199dup , CM000667.1:g.60628197_60628199dup	GRCh37
NC_000005.8:g.60663954_60663956dup	NCBI36
NG_053150.1:g.5098_5100dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252744.6:c.98_100dup MANE Select	ENSP00000252744.5:p.Gly33_Ala34insGly
ENST00000252744.5:c.98_100dup	ENSP00000252744.5:p.Gly33_Ala34insGly
NM_020928.1:c.98_100dup	NP_065979.1:p.Gly33_Ala34insGly
NM_020928.2:c.98_100dup MANE Select	NP_065979.1:p.Gly33_Ala34insGly