Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673515_10673544dup , CM000682.2:g.10673515_10673544dup | GRCh38 |
| NC_000020.10:g.10654163_10654192dup , CM000682.1:g.10654163_10654192dup | GRCh37 |
| NC_000020.9:g.10602163_10602192dup | NCBI36 |
| NG_007496.1:g.5511_5540dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-6_24dup MANE Select | ENSP00000254958.4:p.Gly8_Arg9insAlaAlaMetArgSerProArgThrArgGl... | |
| ENST00000254958.9:c.-6_24dup | ENSP00000254958.4:p.Gly8_Arg9insAlaAlaMetArgSerProArgThrArgGl... | |
| NM_000214.2:c.-6_24dup | NP_000205.1:p.Gly8_Arg9insAlaAlaMetArgSerProArgThrArgGly | |
| NM_000214.3:c.-6_24dup MANE Select | NP_000205.1:p.Gly8_Arg9insAlaAlaMetArgSerProArgThrArgGly |