Canonical Allele Identifier: CA2617685921

Gene: CDKN1B

Linked Data

• gnomAD v4: 12-12718135-G-GGCTCGTCGGGGTCTGTGTCTTTTGGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718135_12718136insGCTCGTCGGGGTCTGTGTCTTTTGGCTC , CM000674.2:g.12718135_12718136insGCTCGTCGGGGTCTGTGTCTTTTGGCTC	GRCh38
NC_000012.11:g.12871069_12871070insGCTCGTCGGGGTCTGTGTCTTTTGGCTC , CM000674.1:g.12871069_12871070insGCTCGTCGGGGTCTGTGTCTTTTGGCTC	GRCh37
NC_000012.10:g.12762336_12762337insGCTCGTCGGGGTCTGTGTCTTTTGGCTC	NCBI36
NG_016341.1:g.5768_5769insGCTCGTCGGGGTCTGTGTCTTTTGGCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.296_297insGCTCGTCGGGGTCTGTGTCTTTTGGCTC	ENSP00000507272.1:p.Cys99TrpfsTer35
ENST00000682620.1:n.1631-690_1631-689insGCTCGTCGGGGTCTGTGTCTTTTGGCTC
ENST00000684771.1:n.585-690_585-689insGCTCGTCGGGGTCTGTGTCTTTTGGCTC
ENST00000228872.9:c.296_297insGCTCGTCGGGGTCTGTGTCTTTTGGCTC MANE Select	ENSP00000228872.4:p.Cys99TrpfsTer35
ENST00000228872.8:c.296_297insGCTCGTCGGGGTCTGTGTCTTTTGGCTC	ENSP00000228872.4:p.Cys99TrpfsTer35
ENST00000396340.1:c.296_297insGCTCGTCGGGGTCTGTGTCTTTTGGCTC	ENSP00000379629.1:p.Cys99TrpfsTer35
ENST00000442489.1:c.193+82_193+83insGCTCGTCGGGGTCTGTGTCTTTTGGCTC	ENSP00000407597.1:n.193+82_193+83insGCTCG...
ENST00000477087.1:n.155-690_155-689insGCTCGTCGGGGTCTGTGTCTTTTGGCTC
NM_004064.4:c.296_297insGCTCGTCGGGGTCTGTGTCTTTTGGCTC	NP_004055.1:p.Cys99TrpfsTer35
NM_004064.5:c.296_297insGCTCGTCGGGGTCTGTGTCTTTTGGCTC MANE Select	NP_004055.1:p.Cys99TrpfsTer35