Linked Data
ClinVar Variation Id:
436969
ClinVar RCV Id:
RCV000504100
dbSNP Id:
rs1406228207
gnomAD v2:
19-14640525-TAAG-T
gnomAD v4:
19-14529713-TAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14529717_14529719del , CM000681.2:g.14529717_14529719del | GRCh38 |
| NC_000019.9:g.14640529_14640531del , CM000681.1:g.14640529_14640531del | GRCh37 |
| NC_000019.8:g.14501529_14501531del | NCBI36 |
| NG_028336.1:g.5151_5153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215567.10:c.15+6_15+8del (TECR) MANE Select | ENSP00000215567.4:n.15+6_15+8del | |
| ENST00000594099.6:c.-619_-617del (DNAJB1) | ENSP00000470460.2:n.-619_-617del | |
| ENST00000642961.1:n.120+6_120+8del (TECR) | ||
| ENST00000676982.1:c.-213-1906_-213-1904del (DNAJB1) | ENSP00000504186.1:n.-213-1906_-213-1904del | |
| ENST00000677113.1:n.492-1906_492-1904del (DNAJB1) | ||
| ENST00000679223.1:c.-174-1906_-174-1904del (DNAJB1) | ENSP00000504527.1:n.-174-1906_-174-1904del | |
| ENST00000215567.9:c.15+6_15+8del (TECR) | ENSP00000215567.4:n.15+6_15+8del | |
| ENST00000593637.5:n.102+6_102+8del (TECR) | ||
| ENST00000594099.5:c.-619_-617del (DNAJB1) | ENSP00000470460.1:n.-619_-617del | |
| ENST00000594807.5:n.82+6_82+8del (TECR) | ||
| ENST00000596073.5:c.-483+6_-483+8del (TECR) | ENSP00000472697.1:n.-483+6_-483+8del | |
| ENST00000596164.5:n.15+6_15+8del (TECR) | ||
| ENST00000596953.5:n.71+6_71+8del (TECR) | ||
| ENST00000597607.5:n.55+6_55+8del (TECR) | ||
| ENST00000598298.5:c.-595+6_-595+8del (TECR) | ENSP00000471341.1:n.-595+6_-595+8del | |
| ENST00000598333.5:c.15+6_15+8del (TECR) | ENSP00000473129.1:n.15+6_15+8del | |
| ENST00000598987.5:c.15+6_15+8del (TECR) | ENSP00000472504.1:n.15+6_15+8del | |
| ENST00000599646.1:n.88_90del (TECR) | ||
| ENST00000600076.5:n.300+12333_300+12335del (TECR) | ||
| ENST00000600083.5:c.-516+6_-516+8del (TECR) | ENSP00000472114.1:n.-516+6_-516+8del | |
| ENST00000601652.5:n.114+6_114+8del (TECR) | ||
| NM_138501.5:c.15+6_15+8del (TECR) | NP_612510.1:n.15+6_15+8del | |
| NR_038103.1:n.145+6_145+8del (TECR) | ||
| NR_038104.1:n.145+6_145+8del (TECR) | ||
| XM_006722945.1:c.15+6_15+8del (TECR) | XP_006723008.1:n.15+6_15+8del | |
| XM_006722947.1:c.-8+6_-8+8del (TECR) | XP_006723010.1:n.-8+6_-8+8del | |
| XM_011528442.1:c.78+1865_78+1867del (TECR) | XP_011526744.1:n.78+1865_78+1867del | |
| NM_001321170.1:c.-8+6_-8+8del (TECR) | NP_001308099.1:n.-8+6_-8+8del | |
| XM_006722734.4:c.-619_-617del (DNAJB1) | XP_006722797.1:n.-619_-617del | |
| XM_006722945.2:c.15+6_15+8del (TECR) | XP_006723008.1:n.15+6_15+8del | |
| XM_011528442.2:c.78+1865_78+1867del (TECR) | XP_011526744.1:n.78+1865_78+1867del | |
| XM_024451790.1:c.15+6_15+8del (TECR) | XP_024307558.1:n.15+6_15+8del | |
| XM_024451791.1:c.15+6_15+8del (TECR) | XP_024307559.1:n.15+6_15+8del | |
| XM_024451792.1:c.78+1865_78+1867del (TECR) | XP_024307560.1:n.78+1865_78+1867del | |
| XM_024451793.1:c.78+1865_78+1867del (TECR) | XP_024307561.1:n.78+1865_78+1867del | |
| XM_024451794.1:c.-8+6_-8+8del (TECR) | XP_024307562.1:n.-8+6_-8+8del | |
| XM_024451795.1:c.-8+6_-8+8del (TECR) | XP_024307563.1:n.-8+6_-8+8del | |
| XM_024451796.1:c.15+6_15+8del (TECR) | XP_024307564.1:n.15+6_15+8del | |
| XM_024451797.1:c.15+6_15+8del (TECR) | XP_024307565.1:n.15+6_15+8del | |
| XM_024451799.1:c.-483+6_-483+8del (TECR) | XP_024307567.1:n.-483+6_-483+8del | |
| NM_138501.6:c.15+6_15+8del (TECR) MANE Select | NP_612510.1:n.15+6_15+8del |