Canonical Allele Identifier: CA3046517803
Gene: CDKN1B HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718163_12718165delinsCGG , CM000674.2:g.12718163_12718165delinsCGG GRCh38
NC_000012.11:g.12871097_12871099delinsCGG , CM000674.1:g.12871097_12871099delinsCGG GRCh37
NC_000012.10:g.12762364_12762366delinsCGG NCBI36
NG_016341.1:g.5796_5798delinsCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.324_326delinsCGG ENSP00000507272.1:p.Val109Gly
ENST00000682620.1:n.1631-662_1631-660delinsCGG
ENST00000684771.1:n.585-662_585-660delinsCGG
ENST00000228872.9:c.324_326delinsCGG MANE Select ENSP00000228872.4:p.Val109Gly
ENST00000228872.8:c.324_326delinsCGG ENSP00000228872.4:p.Val109Gly
ENST00000396340.1:c.324_326delinsCGG ENSP00000379629.1:p.Val109Gly
ENST00000442489.1:c.193+110_193+112delinsCGG ENSP00000407597.1:n.193+110_193+112delinsCGG
ENST00000477087.1:n.155-662_155-660delinsCGG
NM_004064.4:c.324_326delinsCGG NP_004055.1:p.Val109Gly
NM_004064.5:c.324_326delinsCGG MANE Select NP_004055.1:p.Val109Gly