Canonical Allele Identifier: CA684983152

Gene: CDKN1B

Linked Data

• dbSNP Id: rs1217278163
• gnomAD v3: 12-12720458-CCAAT-C
• gnomAD v4: 12-12720458-CCAAT-C
• MyVariant Identifiers: chr12:g.12873393_12873396del (hg19) ; chr12:g.12720459_12720462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12720461_12720464del , CM000674.2:g.12720461_12720464del	GRCh38
NC_000012.11:g.12873395_12873398del , CM000674.1:g.12873395_12873398del	GRCh37
NC_000012.10:g.12764662_12764665del	NCBI36
NG_016341.1:g.8094_8097del

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.*1515_*1518del	ENSP00000507272.1:n.*1515_*1518del
ENST00000682620.1:n.1761-575_1761-572del
ENST00000684771.1:n.715-575_715-572del
ENST00000228872.9:c.*9-575_*9-572del MANE Select	ENSP00000228872.4:n.*9-575_*9-572del
ENST00000228872.8:c.*9-575_*9-572del	ENSP00000228872.4:n.*9-575_*9-572del
ENST00000396340.1:c.476-604_476-601del	ENSP00000379629.1:n.476-604_476-601del
ENST00000442489.1:c.324-575_324-572del	ENSP00000407597.1:n.324-575_324-572del
ENST00000477087.1:n.285-575_285-572del
NM_004064.4:c.*9-575_*9-572del	NP_004055.1:n.*9-575_*9-572del
NM_004064.5:c.*9-575_*9-572del MANE Select	NP_004055.1:n.*9-575_*9-572del