HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713503_6713504insGTTCCTCT , CM000681.2:g.6713503_6713504insGTTCCTCT | GRCh38 |
NC_000019.9:g.6713514_6713515insGTTCCTCT , CM000681.1:g.6713514_6713515insGTTCCTCT | GRCh37 |
NC_000019.8:g.6664514_6664515insGTTCCTCT | NCBI36 |
NG_009557.1:g.12148_12149insAGAGGAAC , LRG_27:g.12148_12149insAGAGGAAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.656_657insAGAGGAAC | ENSP00000512083.1:p.Tyr220GlufsTer? | |
ENST00000695692.1:n.103_104insAGAGGAAC | ||
ENST00000245907.11:c.779_780insAGAGGAAC MANE Select | ENSP00000245907.4:p.Tyr261GlufsTer? | |
ENST00000245907.10:c.779_780insAGAGGAAC | ENSP00000245907.4:p.Tyr261GlufsTer? | |
ENST00000595577.1:n.283_284insAGAGGAAC | ||
ENST00000597442.5:n.29_30insAGAGGAAC | ||
NM_000064.3:c.779_780insAGAGGAAC | NP_000055.2:p.Tyr261GlufsTer? | |
NM_000064.4:c.779_780insAGAGGAAC MANE Select | NP_000055.2:p.Tyr261GlufsTer? |