Canonical Allele Identifier: CA566066873

Gene: CDKAL1

Linked Data

• dbSNP Id: rs530951843
• gnomAD v2: 6-20688110-A-ATTT
• gnomAD v3: 6-20687879-A-ATTT
• gnomAD v4: 6-20687879-A-ATTT
• MyVariant Identifiers: chr6:g.20688111_20688112insTTT (hg19) ; chr6:g.20688110_20688111insTTT (hg19) ; chr6:g.20687880_20687881insTTT (hg38) ; chr6:g.20687879_20687880insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20687888_20687890dup , CM000668.2:g.20687888_20687890dup	GRCh38
NC_000006.11:g.20688119_20688121dup , CM000668.1:g.20688119_20688121dup	GRCh37
NC_000006.10:g.20796098_20796100dup	NCBI36
NG_021195.1:g.158432_158434dup
NG_021195.2:g.158432_158434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274695.8:c.371+38511_371+38513dup MANE Select	ENSP00000274695.4:n.371+38511_371+38513dup
ENST00000378610.1:c.371+38511_371+38513dup	ENSP00000367873.1:n.371+38511_371+38513dup
NM_017774.3:c.371+38511_371+38513dup MANE Select	NP_060244.2:n.371+38511_371+38513dup
XM_006715128.2:c.371+38511_371+38513dup	XP_006715191.1:n.371+38511_371+38513dup
XM_011514718.1:c.371+38511_371+38513dup	XP_011513020.1:n.371+38511_371+38513dup
XM_011514719.1:c.371+38511_371+38513dup	XP_011513021.1:n.371+38511_371+38513dup
XR_926265.1:n.538+38511_538+38513dup
XR_926266.1:n.651+38511_651+38513dup
XR_926267.1:n.538+38511_538+38513dup
XM_011514719.2:c.371+38511_371+38513dup	XP_011513021.1:n.371+38511_371+38513dup
XM_017010986.1:c.371+38511_371+38513dup	XP_016866475.1:n.371+38511_371+38513dup
XM_017010987.1:c.-384+38511_-384+38513dup	XP_016866476.1:n.-384+38511_-384+38513dup
XM_024446481.1:c.371+38511_371+38513dup	XP_024302249.1:n.371+38511_371+38513dup
XR_001743495.2:n.543+38511_543+38513dup
XR_001743496.2:n.938+38511_938+38513dup
XR_001743500.1:n.538+38511_538+38513dup
XR_001743501.1:n.538+38511_538+38513dup
XR_926265.2:n.538+38511_538+38513dup
XR_926266.2:n.651+38511_651+38513dup
XR_926267.2:n.538+38511_538+38513dup