Canonical Allele Identifier: CA2017047685

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 998999
• ClinVar RCV Id: RCV001294937
• dbSNP Id: rs1946493816

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718121_12718122delinsTT , CM000674.2:g.12718121_12718122delinsTT	GRCh38
NC_000012.11:g.12871055_12871056delinsTT , CM000674.1:g.12871055_12871056delinsTT	GRCh37
NC_000012.10:g.12762322_12762323delinsTT	NCBI36
NG_016341.1:g.5754_5755delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.282_283delinsTT	ENSP00000507272.1:p.Pro95Ser
ENST00000682620.1:n.1631-704_1631-703delinsTT
ENST00000684771.1:n.585-704_585-703delinsTT
ENST00000228872.9:c.282_283delinsTT MANE Select	ENSP00000228872.4:p.Pro95Ser
ENST00000228872.8:c.282_283delinsTT	ENSP00000228872.4:p.Pro95Ser
ENST00000396340.1:c.282_283delinsTT	ENSP00000379629.1:p.Pro95Ser
ENST00000442489.1:c.193+68_193+69delinsTT	ENSP00000407597.1:n.193+68_193+69delinsTT
ENST00000477087.1:n.155-704_155-703delinsTT
NM_004064.4:c.282_283delinsTT	NP_004055.1:p.Pro95Ser
NM_004064.5:c.282_283delinsTT MANE Select	NP_004055.1:p.Pro95Ser