Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648920_152648922delinsTGT , CM000669.2:g.152648920_152648922delinsTGT | GRCh38 |
| NC_000007.13:g.152346005_152346007delinsTGT , CM000669.1:g.152346005_152346007delinsTGT | GRCh37 |
| NC_000007.12:g.151976938_151976940delinsTGT | NCBI36 |
| NG_027988.1:g.32244_32246delinsACA | |
| NG_027988.2:g.32244_32246delinsACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.395_397delinsACA | ENSP00000513758.1:p.Arg132_Leu133delinsHi... | |
| ENST00000359321.2:c.563_565delinsACA MANE Select | ENSP00000352271.1:p.Arg188_Leu189delinsHi... | |
| ENST00000359321.1:c.563_565delinsACA | ENSP00000352271.1:p.Arg188_Leu189delinsHi... | |
| ENST00000495707.1:n.585_587delinsACA | ||
| NM_005431.1:c.563_565delinsACA | NP_005422.1:p.Arg188_Leu189delinsHisMet | |
| NM_005431.2:c.563_565delinsACA MANE Select | NP_005422.1:p.Arg188_Leu189delinsHisMet |