Canonical Allele Identifier: CA1614753776
Gene: CDKAL1 HGNC NCBI

Linked Data

dbSNP Id: rs1774725435

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20766852del , CM000668.2:g.20766852del GRCh38
NC_000006.11:g.20767083del , CM000668.1:g.20767083del GRCh37
NC_000006.10:g.20875062del NCBI36
NG_021195.1:g.237396del
NG_021195.2:g.237396del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274695.8:c.517+8209del MANE Select ENSP00000274695.4:n.517+8209del
ENST00000378610.1:c.517+8209del ENSP00000367873.1:n.517+8209del
NM_017774.3:c.517+8209del MANE Select NP_060244.2:n.517+8209del
XM_006715128.2:c.517+8209del XP_006715191.1:n.517+8209del
XM_011514718.1:c.517+8209del XP_011513020.1:n.517+8209del
XM_011514719.1:c.517+8209del XP_011513021.1:n.517+8209del
XR_926265.1:n.684+8209del
XR_926266.1:n.797+8209del
XR_926267.1:n.684+8209del
XM_011514719.2:c.517+8209del XP_011513021.1:n.517+8209del
XM_017010986.1:c.517+8209del XP_016866475.1:n.517+8209del
XM_017010987.1:c.-238+8209del XP_016866476.1:n.-238+8209del
XM_024446481.1:c.517+8209del XP_024302249.1:n.517+8209del
XR_001743495.2:n.689+8209del
XR_001743496.2:n.1084+8209del
XR_001743500.1:n.684+8209del
XR_001743501.1:n.684+8209del
XR_926265.2:n.684+8209del
XR_926266.2:n.797+8209del
XR_926267.2:n.684+8209del