Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157109346_157109347delinsTA , CM000667.2:g.157109346_157109347delinsTA | GRCh38 |
| NC_000005.9:g.156536357_156536358delinsTA , CM000667.1:g.156536357_156536358delinsTA | GRCh37 |
| NC_000005.8:g.156468935_156468936delinsTA | NCBI36 |
| NG_030444.1:g.4891_4892delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-2385_-293-2384delinsTA | ENSP00000430328.2:n.-293-2385_-293-2384delinsTA | |
| ENST00000696899.1:c.-264-100_-264-99delinsTA | ENSP00000512960.1:n.-264-100_-264-99delinsTA | |
| ENST00000696901.1:c.-364_-363delinsTA | ENSP00000512962.1:n.-364_-363delinsTA | |
| ENST00000307851.8:c.-364_-363delinsTA | ENSP00000312002.4:n.-364_-363delinsTA | |
| ENST00000524219.1:c.-293-2385_-293-2384delinsTA | ENSP00000430328.1:n.-293-2385_-293-2384delinsTA |