Canonical Allele Identifier: CA684981708

Gene: CDKN1B

Linked Data

• dbSNP Id: rs1189018209
• gnomAD v3: 12-12718645-TTC-T
• gnomAD v4: 12-12718645-TTC-T
• MyVariant Identifiers: chr12:g.12871580_12871581del (hg19) ; chr12:g.12718646_12718647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718647_12718648del , CM000674.2:g.12718647_12718648del	GRCh38
NC_000012.11:g.12871581_12871582del , CM000674.1:g.12871581_12871582del	GRCh37
NC_000012.10:g.12762848_12762849del	NCBI36
NG_016341.1:g.6280_6281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.476-178_476-177del	ENSP00000507272.1:n.476-178_476-177del
ENST00000682620.1:n.1631-178_1631-177del
ENST00000684771.1:n.585-178_585-177del
ENST00000228872.9:c.476-178_476-177del MANE Select	ENSP00000228872.4:n.476-178_476-177del
ENST00000228872.8:c.476-178_476-177del	ENSP00000228872.4:n.476-178_476-177del
ENST00000396340.1:c.475+333_475+334del	ENSP00000379629.1:n.475+333_475+334del
ENST00000442489.1:c.194-178_194-177del	ENSP00000407597.1:n.194-178_194-177del
ENST00000477087.1:n.155-178_155-177del
NM_004064.4:c.476-178_476-177del	NP_004055.1:n.476-178_476-177del
NM_004064.5:c.476-178_476-177del MANE Select	NP_004055.1:n.476-178_476-177del