Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109271_157109272delinsCA , CM000667.2:g.157109271_157109272delinsCA | GRCh38 |
| NC_000005.9:g.156536282_156536283delinsCA , CM000667.1:g.156536282_156536283delinsCA | GRCh37 |
| NC_000005.8:g.156468860_156468861delinsCA | NCBI36 |
| NG_030444.1:g.4966_4967delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2310_-293-2309delinsTG | ENSP00000430328.2:n.-293-2310_-293-2309delinsTG | |
| ENST00000696899.1:c.-264-25_-264-24delinsTG | ENSP00000512960.1:n.-264-25_-264-24delinsTG | |
| ENST00000696901.1:c.-289_-288delinsTG | ENSP00000512962.1:n.-289_-288delinsTG | |
| ENST00000307851.8:c.-289_-288delinsTG | ENSP00000312002.4:n.-289_-288delinsTG | |
| ENST00000524219.1:c.-293-2310_-293-2309delinsTG | ENSP00000430328.1:n.-293-2310_-293-2309delinsTG |