Canonical Allele Identifier: CA135709789

Gene: CDKAL1

Linked Data

• dbSNP Id: rs764179369
• gnomAD v2: 6-20678257-AAAG-A
• gnomAD v3: 6-20678026-AAAG-A
• gnomAD v4: 6-20678026-AAAG-A
• MyVariant Identifiers: chr6:g.20678258_20678260del (hg19) ; chr6:g.20678027_20678029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20678030_20678032del , CM000668.2:g.20678030_20678032del	GRCh38
NC_000006.11:g.20678261_20678263del , CM000668.1:g.20678261_20678263del	GRCh37
NC_000006.10:g.20786240_20786242del	NCBI36
NG_021195.1:g.148574_148576del
NG_021195.2:g.148574_148576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274695.8:c.371+28653_371+28655del MANE Select	ENSP00000274695.4:n.371+28653_371+28655del
ENST00000378610.1:c.371+28653_371+28655del	ENSP00000367873.1:n.371+28653_371+28655del
NM_017774.3:c.371+28653_371+28655del MANE Select	NP_060244.2:n.371+28653_371+28655del
XM_006715128.2:c.371+28653_371+28655del	XP_006715191.1:n.371+28653_371+28655del
XM_011514718.1:c.371+28653_371+28655del	XP_011513020.1:n.371+28653_371+28655del
XM_011514719.1:c.371+28653_371+28655del	XP_011513021.1:n.371+28653_371+28655del
XR_926265.1:n.538+28653_538+28655del
XR_926266.1:n.651+28653_651+28655del
XR_926267.1:n.538+28653_538+28655del
XM_011514719.2:c.371+28653_371+28655del	XP_011513021.1:n.371+28653_371+28655del
XM_017010986.1:c.371+28653_371+28655del	XP_016866475.1:n.371+28653_371+28655del
XM_017010987.1:c.-384+28653_-384+28655del	XP_016866476.1:n.-384+28653_-384+28655del
XM_024446481.1:c.371+28653_371+28655del	XP_024302249.1:n.371+28653_371+28655del
XR_001743495.2:n.543+28653_543+28655del
XR_001743496.2:n.938+28653_938+28655del
XR_001743500.1:n.538+28653_538+28655del
XR_001743501.1:n.538+28653_538+28655del
XR_926265.2:n.538+28653_538+28655del
XR_926266.2:n.651+28653_651+28655del
XR_926267.2:n.538+28653_538+28655del