Canonical Allele Identifier: CA2593253596

Gene: CDKAL1

Linked Data

• gnomAD v3: 6-20766634-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20766638_20766639del , CM000668.2:g.20766638_20766639del	GRCh38
NC_000006.11:g.20766869_20766870del , CM000668.1:g.20766869_20766870del	GRCh37
NC_000006.10:g.20874848_20874849del	NCBI36
NG_021195.1:g.237182_237183del
NG_021195.2:g.237182_237183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274695.8:c.517+7995_517+7996del MANE Select	ENSP00000274695.4:n.517+7995_517+7996del
ENST00000378610.1:c.517+7995_517+7996del	ENSP00000367873.1:n.517+7995_517+7996del
NM_017774.3:c.517+7995_517+7996del MANE Select	NP_060244.2:n.517+7995_517+7996del
XM_006715128.2:c.517+7995_517+7996del	XP_006715191.1:n.517+7995_517+7996del
XM_011514718.1:c.517+7995_517+7996del	XP_011513020.1:n.517+7995_517+7996del
XM_011514719.1:c.517+7995_517+7996del	XP_011513021.1:n.517+7995_517+7996del
XR_926265.1:n.684+7995_684+7996del
XR_926266.1:n.797+7995_797+7996del
XR_926267.1:n.684+7995_684+7996del
XM_011514719.2:c.517+7995_517+7996del	XP_011513021.1:n.517+7995_517+7996del
XM_017010986.1:c.517+7995_517+7996del	XP_016866475.1:n.517+7995_517+7996del
XM_017010987.1:c.-238+7995_-238+7996del	XP_016866476.1:n.-238+7995_-238+7996del
XM_024446481.1:c.517+7995_517+7996del	XP_024302249.1:n.517+7995_517+7996del
XR_001743495.2:n.689+7995_689+7996del
XR_001743496.2:n.1084+7995_1084+7996del
XR_001743500.1:n.684+7995_684+7996del
XR_001743501.1:n.684+7995_684+7996del
XR_926265.2:n.684+7995_684+7996del
XR_926266.2:n.797+7995_797+7996del
XR_926267.2:n.684+7995_684+7996del