Canonical Allele Identifier: CA944840330

Gene: CDKN1B

Linked Data

• dbSNP Id: rs2136355970
• gnomAD v3: 12-12718113-CCG-C
• gnomAD v4: 12-12718113-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718116_12718117del , CM000674.2:g.12718116_12718117del	GRCh38
NC_000012.11:g.12871050_12871051del , CM000674.1:g.12871050_12871051del	GRCh37
NC_000012.10:g.12762317_12762318del	NCBI36
NG_016341.1:g.5749_5750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.277_278del	ENSP00000507272.1:p.Arg93AlafsTer?
ENST00000682620.1:n.1631-709_1631-708del
ENST00000684771.1:n.585-709_585-708del
ENST00000228872.9:c.277_278del MANE Select	ENSP00000228872.4:p.Arg93AlafsTer?
ENST00000228872.8:c.277_278del	ENSP00000228872.4:p.Arg93AlafsTer?
ENST00000396340.1:c.277_278del	ENSP00000379629.1:p.Arg93AlafsTer?
ENST00000442489.1:c.193+63_193+64del	ENSP00000407597.1:n.193+63_193+64del
ENST00000477087.1:n.155-709_155-708del
NM_004064.4:c.277_278del	NP_004055.1:p.Arg93AlafsTer?
NM_004064.5:c.277_278del MANE Select	NP_004055.1:p.Arg93AlafsTer?