Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73682992_73682993insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT , CM000669.2:g.73682992_73682993insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT | GRCh38 |
| NC_000007.13:g.73097322_73097323insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT , CM000669.1:g.73097322_73097323insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT | GRCh37 |
| NC_000007.12:g.72735258_72735259insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA MANE Select | ENSP00000378605.1:p.Arg146GlyfsTer? | |
| ENST00000395176.2:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA | ENSP00000378605.1:p.Arg146GlyfsTer? | |
| NM_032317.2:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA | NP_115693.2:p.Arg146GlyfsTer? | |
| NM_032317.3:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA MANE Select | NP_115693.2:p.Arg146GlyfsTer? |