Canonical Allele Identifier: CA1086681432

Gene: CDKAL1

Linked Data

• dbSNP Id: rs1774704066
• gnomAD v3: 6-20766375-ACT-A
• gnomAD v4: 6-20766375-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20766376_20766377del , CM000668.2:g.20766376_20766377del	GRCh38
NC_000006.11:g.20766607_20766608del , CM000668.1:g.20766607_20766608del	GRCh37
NC_000006.10:g.20874586_20874587del	NCBI36
NG_021195.1:g.236920_236921del
NG_021195.2:g.236920_236921del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.517+7733_517+7734del MANE Select	ENSP00000274695.4:n.517+7733_517+7734del
ENST00000378610.1:c.517+7733_517+7734del	ENSP00000367873.1:n.517+7733_517+7734del
NM_017774.3:c.517+7733_517+7734del MANE Select	NP_060244.2:n.517+7733_517+7734del
XM_006715128.2:c.517+7733_517+7734del	XP_006715191.1:n.517+7733_517+7734del
XM_011514718.1:c.517+7733_517+7734del	XP_011513020.1:n.517+7733_517+7734del
XM_011514719.1:c.517+7733_517+7734del	XP_011513021.1:n.517+7733_517+7734del
XR_926265.1:n.684+7733_684+7734del
XR_926266.1:n.797+7733_797+7734del
XR_926267.1:n.684+7733_684+7734del
XM_011514719.2:c.517+7733_517+7734del	XP_011513021.1:n.517+7733_517+7734del
XM_017010986.1:c.517+7733_517+7734del	XP_016866475.1:n.517+7733_517+7734del
XM_017010987.1:c.-238+7733_-238+7734del	XP_016866476.1:n.-238+7733_-238+7734del
XM_024446481.1:c.517+7733_517+7734del	XP_024302249.1:n.517+7733_517+7734del
XR_001743495.2:n.689+7733_689+7734del
XR_001743496.2:n.1084+7733_1084+7734del
XR_001743500.1:n.684+7733_684+7734del
XR_001743501.1:n.684+7733_684+7734del
XR_926265.2:n.684+7733_684+7734del
XR_926266.2:n.797+7733_797+7734del
XR_926267.2:n.684+7733_684+7734del