Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992887_16992888insTTGACTAGAAATAGATC , CM000670.2:g.16992887_16992888insTTGACTAGAAATAGATC | GRCh38 |
| NC_000008.10:g.16850396_16850397insTTGACTAGAAATAGATC , CM000670.1:g.16850396_16850397insTTGACTAGAAATAGATC | GRCh37 |
| NC_000008.9:g.16894767_16894768insTTGACTAGAAATAGATC | NCBI36 |
| NG_015978.1:g.14282_14283insTATTTCTAGTCAAGATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*188_*189insTATTTCTAGTCAAGATC MANE Select | ENSP00000180166.5:n.*188_*189insTATTTCTAGTCAAGATC | |
| ENST00000180166.5:c.*188_*189insTATTTCTAGTCAAGATC | ENSP00000180166.5:n.*188_*189insTATTTCTAGTCAAGATC | |
| NM_019851.2:c.*188_*189insTATTTCTAGTCAAGATC | NP_062825.1:n.*188_*189insTATTTCTAGTCAAGATC | |
| NM_019851.3:c.*188_*189insTATTTCTAGTCAAGATC MANE Select | NP_062825.1:n.*188_*189insTATTTCTAGTCAAGATC |