Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859140_135859141delinsCA , CM000664.2:g.135859140_135859141delinsCA | GRCh38 |
| NC_000002.11:g.136616710_136616711delinsCA , CM000664.1:g.136616710_136616711delinsCA | GRCh37 |
| NC_000002.10:g.136333180_136333181delinsCA | NCBI36 |
| NG_008104.2:g.1029_1030delinsTG , LRG_338:g.1029_1030delinsTG | |
| NG_008958.1:g.22301_22302delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1362+160_1362+161delinsTG MANE Select | ENSP00000264156.2:n.1362+160_1362+161deli... | |
| ENST00000264156.2:c.1362+160_1362+161delinsTG | ENSP00000264156.2:n.1362+160_1362+161deli... | |
| ENST00000492091.1:n.181+3466_181+3467delinsTG | ||
| NM_005915.5:c.1362+160_1362+161delinsTG | NP_005906.2:n.1362+160_1362+161delinsTG | |
| NM_005915.6:c.1362+160_1362+161delinsTG MANE Select | NP_005906.2:n.1362+160_1362+161delinsTG |