Linked Data
ClinVar Variation Id:
2704947
ClinVar RCV Id:
RCV003575194
gnomAD v4:
3-129437119-GTTTGAATTGTTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129437124_129437136del , CM000665.2:g.129437124_129437136del | GRCh38 |
| NC_000003.11:g.129155967_129155979del , CM000665.1:g.129155967_129155979del | GRCh37 |
| NC_000003.10:g.130638657_130638669del | NCBI36 |
| NG_023392.1:g.2000_2012del | |
| NG_033106.1:g.8048_8060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687461.1:n.288+3892_288+3904del (IFT122) | ||
| ENST00000693654.1:n.355+3892_355+3904del (IFT122) | ||
| ENST00000429544.7:c.512_524del (MBD4) MANE Select | ENSP00000394080.2:p.Ser171ThrfsTer? | |
| ENST00000249910.5:c.512_524del (MBD4) | ENSP00000249910.1:p.Ser171ThrfsTer? | |
| ENST00000393278.6:c.247+676_247+688del (MBD4) | ENSP00000376959.2:n.247+676_247+688del | |
| ENST00000429544.6:c.512_524del (MBD4) | ENSP00000394080.2:p.Ser171ThrfsTer? | |
| ENST00000503197.5:c.512_524del (MBD4) | ENSP00000424873.1:p.Ser171ThrfsTer? | |
| ENST00000505883.1:n.528_540del (MBD4) | ||
| ENST00000507208.1:c.512_524del (MBD4) | ENSP00000422327.1:p.Ser171ThrfsTer? | |
| ENST00000509587.1:n.442+588_442+600del (MBD4) | ||
| ENST00000509828.1:c.104+2598_104+2610del (MBD4) | ENSP00000422690.1:n.104+2598_104+2610del | |
| NM_001276270.1:c.512_524del (MBD4) | NP_001263199.1:p.Ser171ThrfsTer? | |
| NM_001276271.1:c.512_524del (MBD4) | NP_001263200.1:p.Ser171ThrfsTer? | |
| NM_001276272.1:c.512_524del (MBD4) | NP_001263201.1:p.Ser171ThrfsTer? | |
| NM_001276273.1:c.247+676_247+688del (MBD4) | NP_001263202.1:n.247+676_247+688del | |
| NM_003925.2:c.512_524del (MBD4) | NP_003916.1:p.Ser171ThrfsTer? | |
| XM_011513267.1:c.512_524del (MBD4) | XP_011511569.1:p.Ser171ThrfsTer? | |
| XM_011513268.1:c.16+588_16+600del (MBD4) | XP_011511570.1:n.16+588_16+600del | |
| XM_024453810.1:c.512_524del (MBD4) | XP_024309578.1:p.Ser171ThrfsTer? | |
| NM_001276270.2:c.512_524del (MBD4) MANE Select | NP_001263199.1:p.Ser171ThrfsTer? | |
| NM_001276272.2:c.512_524del (MBD4) | NP_001263201.1:p.Ser171ThrfsTer? | |
| NM_003925.3:c.512_524del (MBD4) | NP_003916.1:p.Ser171ThrfsTer? | |
| NM_001276271.2:c.512_524del (MBD4) | NP_001263200.1:p.Ser171ThrfsTer? | |
| NM_001276273.2:c.247+676_247+688del (MBD4) | NP_001263202.1:n.247+676_247+688del |