HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189003127_189003128del , CM000664.2:g.189003127_189003128del | GRCh38 |
NC_000002.11:g.189867853_189867854del , CM000664.1:g.189867853_189867854del | GRCh37 |
NC_000002.10:g.189576098_189576099del | NCBI36 |
NG_007404.1:g.33755_33756del , LRG_3:g.33755_33756del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2454+65_2454+66del | ENSP00000415346.2:n.2454+65_2454+66del | |
ENST00000304636.9:c.2553+65_2553+66del MANE Select | ENSP00000304408.4:n.2553+65_2553+66del | |
ENST00000304636.7:c.2553+65_2553+66del | ENSP00000304408.3:n.2553+65_2553+66del | |
ENST00000317840.9:c.2527+91_2527+92del | ENSP00000315243.6:n.2527+91_2527+92del | |
NM_000090.3:c.2553+65_2553+66del , LRG_3t1:c.2553+65_2553+66del | NP_000081.1:n.2553+65_2553+66del | |
NM_000090.4:c.2553+65_2553+66del MANE Select | NP_000081.2:n.2553+65_2553+66del |