HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47834467dup , CM000681.2:g.47834467dup | GRCh38 |
NC_000019.9:g.48337724dup , CM000681.1:g.48337724dup | GRCh37 |
NC_000019.8:g.53029536dup | NCBI36 |
NG_008605.1:g.17626dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221996.12:c.24dup MANE Select | ENSP00000221996.5:p.Pro9AlafsTer? | |
ENST00000221996.11:c.24dup | ENSP00000221996.5:p.Pro9AlafsTer? | |
ENST00000539067.5:c.24dup | ENSP00000445565.1:p.Pro9AlafsTer? | |
ENST00000556527.1:n.78-1776dup | ||
ENST00000566686.5:c.24dup | ENSP00000457808.2:p.Pro9AlafsTer? | |
ENST00000613299.1:c.24dup | ENSP00000478106.1:p.Pro9AlafsTer? | |
NM_000554.4:c.24dup | NP_000545.1:p.Pro9AlafsTer? | |
NM_000554.5:c.24dup | NP_000545.1:p.Pro9AlafsTer? | |
NM_000554.6:c.24dup MANE Select | NP_000545.1:p.Pro9AlafsTer? |