Canonical Allele Identifier: CA6457410

Gene: CDKN1B

Linked Data

• dbSNP Id: rs747343355
• ExAC: 12:12870971 TCACAAACCC / T
• MyVariant Identifiers: chr12:g.12870972_12870980del (hg19) ; chr12:g.12718038_12718046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718039_12718047del , CM000674.2:g.12718039_12718047del	GRCh38
NC_000012.11:g.12870973_12870981del , CM000674.1:g.12870973_12870981del	GRCh37
NC_000012.10:g.12762240_12762248del	NCBI36
NG_016341.1:g.5672_5680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.200_208del	ENSP00000507272.1:p.His67_Pro69del
ENST00000682620.1:n.1631-786_1631-778del
ENST00000684771.1:n.585-786_585-778del
ENST00000228872.9:c.200_208del MANE Select	ENSP00000228872.4:p.His67_Pro69del
ENST00000228872.8:c.200_208del	ENSP00000228872.4:p.His67_Pro69del
ENST00000396340.1:c.200_208del	ENSP00000379629.1:p.His67_Pro69del
ENST00000442489.1:c.179_187del	ENSP00000407597.1:p.His60_Pro62del
ENST00000477087.1:n.155-786_155-778del
NM_004064.4:c.200_208del	NP_004055.1:p.His67_Pro69del
NM_004064.5:c.200_208del MANE Select	NP_004055.1:p.His67_Pro69del