Canonical Allele Identifier: CA2591888260

Gene: CDKN1B

Linked Data

• dbSNP Id: rs1252078839
• gnomAD v3: 12-12718492-CAG-C
• gnomAD v4: 12-12718492-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718494_12718495del , CM000674.2:g.12718494_12718495del	GRCh38
NC_000012.11:g.12871428_12871429del , CM000674.1:g.12871428_12871429del	GRCh37
NC_000012.10:g.12762695_12762696del	NCBI36
NG_016341.1:g.6127_6128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.475+180_475+181del	ENSP00000507272.1:n.475+180_475+181del
ENST00000682620.1:n.1631-331_1631-330del
ENST00000684771.1:n.585-331_585-330del
ENST00000228872.9:c.475+180_475+181del MANE Select	ENSP00000228872.4:n.475+180_475+181del
ENST00000228872.8:c.475+180_475+181del	ENSP00000228872.4:n.475+180_475+181del
ENST00000396340.1:c.475+180_475+181del	ENSP00000379629.1:n.475+180_475+181del
ENST00000442489.1:c.194-331_194-330del	ENSP00000407597.1:n.194-331_194-330del
ENST00000477087.1:n.155-331_155-330del
NM_004064.4:c.475+180_475+181del	NP_004055.1:n.475+180_475+181del
NM_004064.5:c.475+180_475+181del MANE Select	NP_004055.1:n.475+180_475+181del