Canonical Allele Identifier: CA566063475

Gene: CDKAL1

Linked Data

• gnomAD v2: 6-20678337-C-CTT
• gnomAD v3: 6-20678106-C-CTT
• gnomAD v4: 6-20678106-C-CTT
• MyVariant Identifiers: chr6:g.20678337_20678338insTT (hg19) ; chr6:g.20678106_20678107insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20678107_20678108insTT , CM000668.2:g.20678107_20678108insTT	GRCh38
NC_000006.11:g.20678338_20678339insTT , CM000668.1:g.20678338_20678339insTT	GRCh37
NC_000006.10:g.20786317_20786318insTT	NCBI36
NG_021195.1:g.148651_148652insTT
NG_021195.2:g.148651_148652insTT

Transcript Alleles

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