ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136372043_136372044delinsAT , CM000671.2:g.136372043_136372044delinsAT | GRCh38 |
| NC_000009.11:g.139266495_139266496delinsAT , CM000671.1:g.139266495_139266496delinsAT | GRCh37 |
| NC_000009.10:g.138386316_138386317delinsAT | NCBI36 |
| NG_021197.1:g.6638_6639delinsAT , LRG_178:g.6638_6639delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641290.2:n.114-74_114-73delinsAT | ||
| ENST00000695905.1:n.163_164delinsAT | ||
| ENST00000695906.1:n.163_164delinsAT | ||
| ENST00000695908.1:n.154_155delinsAT | ||
| ENST00000696169.1:c.35_36delinsAT | ENSP00000512460.1:p.Ser12Asn | |
| ENST00000371732.10:c.35_36delinsAT MANE Select | ENSP00000360797.5:p.Ser12Asn | |
| ENST00000641290.1:c.-204-74_-204-73delinsAT | ENSP00000493113.1:n.-204-74_-204-73delinsAT | |
| ENST00000371732.9:c.35_36delinsAT | ENSP00000360797.5:p.Ser12Asn | |
| ENST00000371734.7:c.35_36delinsAT | ENSP00000360799.3:p.Ser12Asn | |
| ENST00000481053.5:n.164_165delinsAT | ||
| ENST00000489932.2:c.35_36delinsAT | ENSP00000451368.1:p.Ser12Asn | |
| ENST00000556340.1:n.166_167delinsAT | ||
| NM_052813.4:c.35_36delinsAT , LRG_178t1:c.35_36delinsAT | NP_434700.2:p.Ser12Asn | |
| NM_052814.3:c.35_36delinsAT | NP_434701.1:p.Ser12Asn | |
| NM_052813.5:c.35_36delinsAT MANE Select | NP_434700.2:p.Ser12Asn | |
| NM_052814.4:c.35_36delinsAT | NP_434701.1:p.Ser12Asn |