UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
183394
ClinVar RCV Id:
RCV000162208
dbSNP Id:
rs786201010
gnomAD v4:
12-12717383-CCCTT-C
PubMed:
PMID:23555276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717386_12717389del , CM000674.2:g.12717386_12717389del | GRCh38 |
| NC_000012.11:g.12870320_12870323del , CM000674.1:g.12870320_12870323del | GRCh37 |
| NC_000012.10:g.12761587_12761590del | NCBI36 |
| NG_016341.1:g.5019_5022del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.-454_-451del (CDKN1B) | ENSP00000507272.1:n.-454_-451del | |
| ENST00000682620.1:n.1631-1439_1631-1436del (CDKN1B) | ||
| ENST00000684771.1:n.585-1439_585-1436del (CDKN1B) | ||
| ENST00000228872.9:c.-454_-451del (CDKN1B) MANE Select | ENSP00000228872.4:n.-454_-451del | |
| ENST00000228872.8:c.-454_-451del (CDKN1B) | ENSP00000228872.4:n.-454_-451del | |
| ENST00000477087.1:n.155-1439_155-1436del (CDKN1B) | ||
| NM_004064.4:c.-454_-451del (CDKN1B) | NP_004055.1:n.-454_-451del | |
| XM_011520623.3:c.-1881_-1878del (GPR19) | XP_011518925.1:n.-1881_-1878del | |
| XM_017019216.2:c.-1909_-1906del (GPR19) | XP_016874705.1:n.-1909_-1906del | |
| NM_004064.5:c.-454_-451del (CDKN1B) MANE Select | NP_004055.1:n.-454_-451del |