Linked Data
ClinVar Variation Id:
938913
ClinVar RCV Id:
RCV001208215
dbSNP Id:
rs1317080057
gnomAD v2:
12-121174797-G-GATCC
gnomAD v3:
12-120736994-G-GATCC
gnomAD v4:
12-120736994-G-GATCC
MyVariant Identifiers:
chr12:g.121174797_121174798insATCC (hg19)
chr12:g.120736994_120736995insATCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120736996_120736997insCCAT , CM000674.2:g.120736996_120736997insCCAT | GRCh38 |
| NC_000012.11:g.121174799_121174800insCCAT , CM000674.1:g.121174799_121174800insCCAT | GRCh37 |
| NC_000012.10:g.119659182_119659183insCCAT | NCBI36 |
| NG_007991.1:g.16229_16230insCCAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.221_222insCCAT MANE Select | ENSP00000242592.4:p.Met74IlefsTer? | |
| ENST00000242592.8:c.221_222insCCAT | ENSP00000242592.4:p.Met74IlefsTer? | |
| ENST00000411593.2:c.221_222insCCAT | ENSP00000401045.2:p.Met74IlefsTer? | |
| ENST00000539690.1:n.333_334insCCAT | ||
| NM_000017.3:c.221_222insCCAT | NP_000008.1:p.Met74IlefsTer? | |
| NM_001302554.1:c.221_222insCCAT | NP_001289483.1:p.Met74IlefsTer? | |
| NM_000017.4:c.221_222insCCAT MANE Select | NP_000008.1:p.Met74IlefsTer? | |
| NM_001302554.2:c.221_222insCCAT | NP_001289483.1:p.Met74IlefsTer? |