Canonical Allele Identifier: CA1086651183

Gene: CDKAL1

Linked Data

• gnomAD v3: 6-20678106-C-CTTTT
• gnomAD v4: 6-20678106-C-CTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20678107_20678108insTTTT , CM000668.2:g.20678107_20678108insTTTT	GRCh38
NC_000006.11:g.20678338_20678339insTTTT , CM000668.1:g.20678338_20678339insTTTT	GRCh37
NC_000006.10:g.20786317_20786318insTTTT	NCBI36
NG_021195.1:g.148651_148652insTTTT
NG_021195.2:g.148651_148652insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274695.8:c.371+28730_371+28731insTTTT MANE Select	ENSP00000274695.4:n.371+28730_371+28731insTTTT
ENST00000378610.1:c.371+28730_371+28731insTTTT	ENSP00000367873.1:n.371+28730_371+28731insTTTT
NM_017774.3:c.371+28730_371+28731insTTTT MANE Select	NP_060244.2:n.371+28730_371+28731insTTTT
XM_006715128.2:c.371+28730_371+28731insTTTT	XP_006715191.1:n.371+28730_371+28731insTTTT
XM_011514718.1:c.371+28730_371+28731insTTTT	XP_011513020.1:n.371+28730_371+28731insTTTT
XM_011514719.1:c.371+28730_371+28731insTTTT	XP_011513021.1:n.371+28730_371+28731insTTTT
XR_926265.1:n.538+28730_538+28731insTTTT
XR_926266.1:n.651+28730_651+28731insTTTT
XR_926267.1:n.538+28730_538+28731insTTTT
XM_011514719.2:c.371+28730_371+28731insTTTT	XP_011513021.1:n.371+28730_371+28731insTTTT
XM_017010986.1:c.371+28730_371+28731insTTTT	XP_016866475.1:n.371+28730_371+28731insTTTT
XM_017010987.1:c.-384+28730_-384+28731insTTTT	XP_016866476.1:n.-384+28730_-384+28731insTTTT
XM_024446481.1:c.371+28730_371+28731insTTTT	XP_024302249.1:n.371+28730_371+28731insTTTT
XR_001743495.2:n.543+28730_543+28731insTTTT
XR_001743496.2:n.938+28730_938+28731insTTTT
XR_001743500.1:n.538+28730_538+28731insTTTT
XR_001743501.1:n.538+28730_538+28731insTTTT
XR_926265.2:n.538+28730_538+28731insTTTT
XR_926266.2:n.651+28730_651+28731insTTTT
XR_926267.2:n.538+28730_538+28731insTTTT