Canonical Allele Identifier: CA2562256227
Gene: CDKAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20766356_20766365del , CM000668.2:g.20766356_20766365del GRCh38
NC_000006.11:g.20766587_20766596del , CM000668.1:g.20766587_20766596del GRCh37
NC_000006.10:g.20874566_20874575del NCBI36
NG_021195.1:g.236900_236909del
NG_021195.2:g.236900_236909del

Transcript Alleles

HGVS Amino-acid change
ENST00000274695.8:c.517+7713_517+7722del MANE Select ENSP00000274695.4:n.517+7713_517+7722del
ENST00000378610.1:c.517+7713_517+7722del ENSP00000367873.1:n.517+7713_517+7722del
NM_017774.3:c.517+7713_517+7722del MANE Select NP_060244.2:n.517+7713_517+7722del
XM_006715128.2:c.517+7713_517+7722del XP_006715191.1:n.517+7713_517+7722del
XM_011514718.1:c.517+7713_517+7722del XP_011513020.1:n.517+7713_517+7722del
XM_011514719.1:c.517+7713_517+7722del XP_011513021.1:n.517+7713_517+7722del
XR_926265.1:n.684+7713_684+7722del
XR_926266.1:n.797+7713_797+7722del
XR_926267.1:n.684+7713_684+7722del
XM_011514719.2:c.517+7713_517+7722del XP_011513021.1:n.517+7713_517+7722del
XM_017010986.1:c.517+7713_517+7722del XP_016866475.1:n.517+7713_517+7722del
XM_017010987.1:c.-238+7713_-238+7722del XP_016866476.1:n.-238+7713_-238+7722del
XM_024446481.1:c.517+7713_517+7722del XP_024302249.1:n.517+7713_517+7722del
XR_001743495.2:n.689+7713_689+7722del
XR_001743496.2:n.1084+7713_1084+7722del
XR_001743500.1:n.684+7713_684+7722del
XR_001743501.1:n.684+7713_684+7722del
XR_926265.2:n.684+7713_684+7722del
XR_926266.2:n.797+7713_797+7722del
XR_926267.2:n.684+7713_684+7722del