Canonical Allele Identifier: CA2977318558
Gene: CDKN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718116_12718117insAGGCACCTTTGGGGGGCCGCGGG , CM000674.2:g.12718116_12718117insAGGCACCTTTGGGGGGCCGCGGG GRCh38
NC_000012.11:g.12871050_12871051insAGGCACCTTTGGGGGGCCGCGGG , CM000674.1:g.12871050_12871051insAGGCACCTTTGGGGGGCCGCGGG GRCh37
NC_000012.10:g.12762317_12762318insAGGCACCTTTGGGGGGCCGCGGG NCBI36
NG_016341.1:g.5749_5750insAGGCACCTTTGGGGGGCCGCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.277_278insAGGCACCTTTGGGGGGCCGCGGG ENSP00000507272.1:p.Arg93GlnfsTer34
ENST00000682620.1:n.1631-709_1631-708insAGGCACCTTTGGGGGGCCGCGGG
ENST00000684771.1:n.585-709_585-708insAGGCACCTTTGGGGGGCCGCGGG
ENST00000228872.9:c.277_278insAGGCACCTTTGGGGGGCCGCGGG MANE Select ENSP00000228872.4:p.Arg93GlnfsTer34
ENST00000228872.8:c.277_278insAGGCACCTTTGGGGGGCCGCGGG ENSP00000228872.4:p.Arg93GlnfsTer34
ENST00000396340.1:c.277_278insAGGCACCTTTGGGGGGCCGCGGG ENSP00000379629.1:p.Arg93GlnfsTer34
ENST00000442489.1:c.193+63_193+64insAGGCACCTTTGGGGGGCCGCGGG ENSP00000407597.1:n.193+63_193+64insAGGCACCTTTGGGGGGCCGCGGG
ENST00000477087.1:n.155-709_155-708insAGGCACCTTTGGGGGGCCGCGGG
NM_004064.4:c.277_278insAGGCACCTTTGGGGGGCCGCGGG NP_004055.1:p.Arg93GlnfsTer34
NM_004064.5:c.277_278insAGGCACCTTTGGGGGGCCGCGGG MANE Select NP_004055.1:p.Arg93GlnfsTer34