HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21600210_21600223del , CM000669.2:g.21600210_21600223del | GRCh38 |
NC_000007.13:g.21639828_21639841del , CM000669.1:g.21639828_21639841del | GRCh37 |
NC_000007.12:g.21606353_21606366del | NCBI36 |
NG_012886.2:g.61996_62009del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.3000+91_3000+104del MANE Select | ENSP00000475939.1:n.3000+91_3000+104del | |
ENST00000328843.10:c.3000+91_3000+104del | ENSP00000330671.7:n.3000+91_3000+104del | |
ENST00000409508.7:c.3000+91_3000+104del | ENSP00000475939.1:n.3000+91_3000+104del | |
ENST00000620169.4:c.3000+91_3000+104del | ENSP00000481693.1:n.3000+91_3000+104del | |
NM_001277115.1:c.3000+91_3000+104del | NP_001264044.1:n.3000+91_3000+104del | |
NM_001277115.2:c.3000+91_3000+104del MANE Select | NP_001264044.1:n.3000+91_3000+104del |