Linked Data
dbSNP Id:
rs747065070
ExAC:
5:13769236 CTTT / C
gnomAD v2:
5-13769236-CTTT-C
gnomAD v4:
5-13769127-CTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769129_13769131del , CM000667.2:g.13769129_13769131del | GRCh38 |
| NC_000005.9:g.13769238_13769240del , CM000667.1:g.13769238_13769240del | GRCh37 |
| NC_000005.8:g.13822238_13822240del | NCBI36 |
| NG_013081.1:g.180351_180353del | |
| NG_013081.2:g.180351_180353del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9727_9729del MANE Select | ENSP00000265104.4:p.Lys3243del | |
| ENST00000681290.1:c.9682_9684del | ENSP00000505288.1:p.Lys3228del | |
| ENST00000265104.4:c.9727_9729del | ENSP00000265104.4:p.Lys3243del | |
| ENST00000504001.3:n.439_441del | ||
| NM_001369.2:c.9727_9729del | NP_001360.1:p.Lys3243del | |
| XM_005248262.2:c.9682_9684del | XP_005248319.1:p.Lys3228del | |
| XM_005248262.3:c.9835_9837del | XP_005248319.2:p.Lys3279del | |
| XM_017009177.1:c.9835_9837del | XP_016864666.1:p.Lys3279del | |
| XM_017009178.1:c.8740_8742del | XP_016864667.1:p.Lys2914del | |
| XM_017009179.2:c.8740_8742del | XP_016864668.1:p.Lys2914del | |
| XM_017009180.1:c.9835_9837del | XP_016864669.1:p.Lys3279del | |
| XM_017009181.1:c.9835_9837del | XP_016864670.1:p.Lys3279del | |
| XM_017009182.1:c.9835_9837del | XP_016864671.1:p.Lys3279del | |
| XM_017009185.1:c.4924_4926del | XP_016864674.1:p.Lys1642del | |
| XM_017009186.1:c.4477_4479del | XP_016864675.1:p.Lys1493del | |
| XM_017009188.1:c.3814_3816del | XP_016864677.1:p.Lys1272del | |
| XM_024454388.1:c.8740_8742del | XP_024310156.1:p.Lys2914del | |
| XM_024454389.1:c.8329_8331del | XP_024310157.1:p.Lys2777del | |
| NM_001369.3:c.9727_9729del MANE Select | NP_001360.1:p.Lys3243del |