Canonical Allele Identifier: CA6457358
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 960097
ClinVar RCV Id: RCV001233560 RCV002430000
dbSNP Id: rs758613901
ExAC: 12:12870773 GATGTCAAACGTGCGA / G
gnomAD v2: 12-12870773-GATGTCAAACGTGCGA-G
gnomAD v4: 12-12717839-GATGTCAAACGTGCGA-G
MyVariant Identifiers: chr12:g.12870774_12870788del (hg19) chr12:g.12717840_12717854del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717840_12717854del , CM000674.2:g.12717840_12717854del GRCh38
NC_000012.11:g.12870774_12870788del , CM000674.1:g.12870774_12870788del GRCh37
NC_000012.10:g.12762041_12762055del NCBI36
NG_016341.1:g.5473_5487del

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.1_15del ENSP00000507272.1:p.Met1_Arg5del
ENST00000682620.1:n.1631-985_1631-971del
ENST00000684771.1:n.585-985_585-971del
ENST00000228872.9:c.1_15del MANE Select ENSP00000228872.4:p.Met1_Arg5del
ENST00000228872.8:c.1_15del ENSP00000228872.4:p.Met1_Arg5del
ENST00000396340.1:c.1_15del ENSP00000379629.1:p.Met1_Arg5del
ENST00000477087.1:n.155-985_155-971del
NM_004064.4:c.1_15del NP_004055.1:p.Met1_Arg5del
NM_004064.5:c.1_15del MANE Select NP_004055.1:p.Met1_Arg5del
Search 100 bp 5'
Search 100 bp 3'