Linked Data
ClinVar Variation Id:
552279
ClinVar RCV Id:
RCV000667507
dbSNP Id:
rs1555209578
gnomAD v4:
12-102912832-CTTT-C
MyVariant Identifiers:
chr12:g.102912833_102912835del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912833_102912835del , CM000674.2:g.102912833_102912835del | GRCh38 |
| NC_000012.11:g.103306611_103306613del , CM000674.1:g.103306611_103306613del | GRCh37 |
| NC_000012.10:g.101830741_101830743del | NCBI36 |
| NG_008690.1:g.9768_9770del | |
| NG_008690.2:g.50576_50578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.124_126del MANE Select | ENSP00000448059.1:p.Lys42del | |
| ENST00000307000.7:c.109_111del | ENSP00000303500.2:p.Lys37del | |
| ENST00000546844.1:c.124_126del | ENSP00000446658.1:p.Lys42del | |
| ENST00000548677.2:n.211_213del | ||
| ENST00000548928.1:n.46_48del | ||
| ENST00000549111.5:n.220_222del | ||
| ENST00000550978.6:c.108_110del | ||
| ENST00000551337.5:c.124_126del | ENSP00000447620.1:p.Lys42del | |
| ENST00000551988.5:n.213_215del | ||
| ENST00000553106.5:c.124_126del | ENSP00000448059.1:p.Lys42del | |
| ENST00000635500.1:n.92_94del | ||
| NM_000277.1:c.124_126del | NP_000268.1:p.Lys42del | |
| XM_011538422.1:c.124_126del | XP_011536724.1:p.Lys42del | |
| NM_000277.2:c.124_126del | NP_000268.1:p.Lys42del | |
| NM_001354304.1:c.124_126del | NP_001341233.1:p.Lys42del | |
| XM_017019370.2:c.124_126del | XP_016874859.1:p.Lys42del | |
| NM_000277.3:c.124_126del MANE Select | NP_000268.1:p.Lys42del | |
| NM_001354304.2:c.124_126del | NP_001341233.1:p.Lys42del |