Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652489_171652490delinsAT , CM000663.2:g.171652489_171652490delinsAT | GRCh38 |
| NC_000001.10:g.171621629_171621630delinsAT , CM000663.1:g.171621629_171621630delinsAT | GRCh37 |
| NC_000001.9:g.169888252_169888253delinsAT | NCBI36 |
| NG_008859.1:g.5144_5145delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.122_123delinsAT MANE Select | ENSP00000037502.5:p.Asn41= | |
| ENST00000638471.1:c.122_123delinsAT | ENSP00000491206.1:p.Asn41= | |
| ENST00000037502.10:c.122_123delinsAT | ENSP00000037502.5:p.Asn41= | |
| ENST00000614688.1:c.122_123delinsAT | ENSP00000478680.1:p.Asn41= | |
| NM_000261.1:c.122_123delinsAT | NP_000252.1:p.Asn41= | |
| NM_000261.2:c.122_123delinsAT MANE Select | NP_000252.1:p.Asn41= |