HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12790411del , CM000686.2:g.12790411del | GRCh38 |
NC_000024.9:g.14902344del , CM000686.1:g.14902344del | GRCh37 |
NC_000024.8:g.13411738del | NCBI36 |
NG_008311.1:g.94185del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.3566del | ENSP00000498372.1:p.Asn1189ThrfsTer? | |
ENST00000338981.7:c.3566del MANE Select | ENSP00000342812.3:p.Asn1189ThrfsTer? | |
ENST00000426564.6:n.3578del | ||
NM_004654.3:c.3566del | NP_004645.2:p.Asn1189ThrfsTer? | |
XM_011531469.1:c.3566del | XP_011529771.1:p.Asn1189ThrfsTer? | |
XM_011531470.1:c.3332del | XP_011529772.1:p.Asn1111ThrfsTer? | |
XM_017030078.2:c.3581del | XP_016885567.1:p.Asn1194ThrfsTer? | |
NM_004654.4:c.3566del MANE Select | NP_004645.2:p.Asn1189ThrfsTer? |