Canonical Allele Identifier: CA3653000

Gene: CDKAL1

Linked Data

• dbSNP Id: rs755550602
• ExAC: 6:20546703 G / GT
• gnomAD v2: 6-20546703-G-GT
• gnomAD v3: 6-20546472-G-GT
• gnomAD v4: 6-20546472-G-GT
• MyVariant Identifiers: chr6:g.20546703_20546704insT (hg19) ; chr6:g.20546472_20546473insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20546472_20546473insT , CM000668.2:g.20546472_20546473insT	GRCh38
NC_000006.11:g.20546703_20546704insT , CM000668.1:g.20546703_20546704insT	GRCh37
NC_000006.10:g.20654682_20654683insT	NCBI36
NG_021195.1:g.17016_17017insT
NG_021195.2:g.17016_17017insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.122_123insT MANE Select	ENSP00000274695.4:p.Asn42LysfsTer16
ENST00000378610.1:c.122_123insT	ENSP00000367873.1:p.Asn42LysfsTer16
ENST00000613575.4:c.122_123insT	ENSP00000481755.1:p.Asn42LysfsTer16
NM_017774.3:c.122_123insT MANE Select	NP_060244.2:p.Asn42LysfsTer16
XM_006715128.2:c.122_123insT	XP_006715191.1:p.Asn42LysfsTer16
XM_011514718.1:c.122_123insT	XP_011513020.1:p.Asn42LysfsTer16
XM_011514719.1:c.122_123insT	XP_011513021.1:p.Asn42LysfsTer16
XR_926265.1:n.289_290insT
XR_926266.1:n.402_403insT
XR_926267.1:n.289_290insT
XM_011514719.2:c.122_123insT	XP_011513021.1:p.Asn42LysfsTer16
XM_017010986.1:c.122_123insT	XP_016866475.1:p.Asn42LysfsTer16
XM_017010987.1:c.-633_-632insT	XP_016866476.1:n.-633_-632insT
XM_024446481.1:c.122_123insT	XP_024302249.1:p.Asn42LysfsTer16
XR_001743495.2:n.294_295insT
XR_001743496.2:n.689_690insT
XR_001743500.1:n.289_290insT
XR_001743501.1:n.289_290insT
XR_926265.2:n.289_290insT
XR_926266.2:n.402_403insT
XR_926267.2:n.289_290insT