HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255365_133255429del , CM000671.2:g.133255365_133255429del | GRCh38 |
NC_000009.11:g.136130752_136130816del , CM000671.1:g.136130752_136130816del | GRCh37 |
NC_000009.10:g.135120573_135120637del | NCBI36 |
NG_006669.1:g.22240_22304del | |
NG_006669.2:g.24788_24852del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1332_1396del | ||
ENST00000647353.1:n.54-4276_54-4212del | ||
ENST00000679909.1:c.28+19734_28+19798del | ENSP00000506089.1:n.28+19734_28+19798del | |
ENST00000453660.3:n.1314_1378del | ||
ENST00000611156.4:c.*238_*302del | ENSP00000483265.1:n.*238_*302del | |
NM_020469.2:c.*238_*302del | NP_065202.2:n.*238_*302del | |
NM_020469.3:c.*238_*302del | NP_065202.2:n.*238_*302del |