HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255708_133255712del , CM000671.2:g.133255708_133255712del | GRCh38 |
NC_000009.11:g.136131095_136131099del , CM000671.1:g.136131095_136131099del | GRCh37 |
NC_000009.10:g.135120916_135120920del | NCBI36 |
NG_006669.1:g.21956_21960del | |
NG_006669.2:g.24504_24508del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.1048_1052del | ||
ENST00000647353.1:n.54-4560_54-4556del | ||
ENST00000679909.1:c.28+19450_28+19454del | ENSP00000506089.1:n.28+19450_28+19454del | |
ENST00000453660.3:n.1030_1034del | ||
ENST00000538324.2:c.1016_1020del | ENSP00000483018.1:p.Arg339AsnfsTer13 | |
ENST00000611156.4:c.1016_1020del | ENSP00000483265.1:p.Arg339AsnfsTer? | |
NM_020469.2:c.1019_1023del | NP_065202.2:p.Arg340AsnfsTer? | |
NM_020469.3:c.1019_1023del | NP_065202.2:p.Arg340AsnfsTer? |