HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199402_137199403del , CM000671.2:g.137199402_137199403del | GRCh38 |
NC_000009.11:g.140093854_140093855del , CM000671.1:g.140093854_140093855del | GRCh37 |
NC_000009.10:g.139213675_139213676del | NCBI36 |
NG_027801.1:g.6309_6310del | |
NG_027801.2:g.9791_9792del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1309_1310del MANE Select | ENSP00000387100.4:p.Arg437GlyfsTer8 | |
ENST00000333046.8:c.703_704del | ENSP00000327617.4:p.Arg235GlyfsTer8 | |
ENST00000409012.4:c.1309_1310del | ENSP00000387100.4:p.Arg437GlyfsTer8 | |
ENST00000541945.1:n.90+4701_90+4702del | ||
NM_001128228.2:c.1309_1310del | NP_001121700.2:p.Arg437GlyfsTer8 | |
NM_001128228.3:c.1309_1310del MANE Select | NP_001121700.2:p.Arg437GlyfsTer8 |