Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202467694_202467697del , CM000664.2:g.202467694_202467697del | GRCh38 |
| NC_000002.11:g.203332417_203332420del , CM000664.1:g.203332417_203332420del | GRCh37 |
| NC_000002.10:g.203040662_203040665del | NCBI36 |
| NG_009363.1:g.96368_96371del , LRG_712:g.96368_96371del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.418+5_418+8del | ||
| ENST00000638587.1:c.349+5_349+8del | ||
| ENST00000374574.2:c.418+5_418+8del | ||
| ENST00000374580.8:c.418+5_418+8del | ||
| ENST00000479069.1:n.325+5_325+8del | ||
| NM_001204.6:c.418+5_418+8del , LRG_712t1:c.418+5_418+8del | ||
| XM_011511687.1:c.418+5_418+8del | ||
| XM_011511688.1:c.418+5_418+8del | ||
| NM_001204.7:c.418+5_418+8del |