Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672372_119672373delinsTT , CM000672.2:g.119672372_119672373delinsTT | GRCh38 |
| NC_000010.10:g.121431884_121431885delinsTT , CM000672.1:g.121431884_121431885delinsTT | GRCh37 |
| NC_000010.9:g.121421874_121421875delinsTT | NCBI36 |
| NG_016125.1:g.26003_26004delinsTT , LRG_742:g.26003_26004delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.625_626delinsTT MANE Select | ENSP00000358081.4:p.Pro209Leu | |
| ENST00000369085.7:c.625_626delinsTT | ENSP00000358081.3:p.Pro209Leu | |
| ENST00000450186.1:c.451_452delinsTT | ENSP00000410036.1:p.Pro151Leu | |
| NM_004281.3:c.625_626delinsTT , LRG_742t1:c.625_626delinsTT | NP_004272.2:p.Pro209Leu | |
| XM_005270287.1:c.625_626delinsTT | XP_005270344.1:p.Pro209Leu | |
| XM_005270287.2:c.625_626delinsTT | XP_005270344.1:p.Pro209Leu | |
| NM_004281.4:c.625_626delinsTT MANE Select | NP_004272.2:p.Pro209Leu |