Linked Data
dbSNP Id:
rs374771640
gnomAD v2:
4-74270302-T-TAA
gnomAD v3:
4-73404585-T-TAA
gnomAD v4:
4-73404585-T-TAA
COSMIC:
COSN1300800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404597_73404598dup , CM000666.2:g.73404597_73404598dup | GRCh38 |
| NC_000004.11:g.74270314_74270315dup , CM000666.1:g.74270314_74270315dup | GRCh37 |
| NC_000004.10:g.74489178_74489179dup | NCBI36 |
| NG_009291.1:g.5343_5344dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.79+191_79+192dup MANE Select | ENSP00000295897.4:n.79+191_79+192dup | |
| ENST00000295897.8:c.79+191_79+192dup | ENSP00000295897.4:n.79+191_79+192dup | |
| ENST00000401494.7:c.79+191_79+192dup | ENSP00000384695.3:n.79+191_79+192dup | |
| ENST00000415165.6:c.79+191_79+192dup | ENSP00000401820.2:n.79+191_79+192dup | |
| ENST00000441319.5:c.85+191_85+192dup | ENSP00000392541.1:n.85+191_85+192dup | |
| ENST00000476441.6:c.79+191_79+192dup | ENSP00000423727.1:n.79+191_79+192dup | |
| ENST00000503124.5:c.-102+191_-102+192dup | ENSP00000421027.1:n.-102+191_-102+192dup | |
| ENST00000509063.5:c.79+191_79+192dup | ENSP00000422784.1:n.79+191_79+192dup | |
| ENST00000510166.5:n.120+191_120+192dup | ||
| ENST00000514786.1:n.48+261_48+262dup | ||
| ENST00000515133.5:n.120+191_120+192dup | ||
| ENST00000621085.4:c.79+191_79+192dup | ENSP00000483421.1:n.79+191_79+192dup | |
| ENST00000621628.4:c.79+191_79+192dup | ENSP00000480485.1:n.79+191_79+192dup | |
| NM_000477.5:c.79+191_79+192dup | NP_000468.1:n.79+191_79+192dup | |
| NM_000477.6:c.79+191_79+192dup | NP_000468.1:n.79+191_79+192dup | |
| NM_000477.7:c.79+191_79+192dup MANE Select | NP_000468.1:n.79+191_79+192dup |