Linked Data
ClinVar Variation Id:
556691
ClinVar RCV Id:
RCV000672730
dbSNP Id:
rs1279199437
gnomAD v2:
5-131705534-ACCCTCCGCGGACGGTCTTGGGTCGCCTG-A
gnomAD v3:
5-132369842-ACCCTCCGCGGACGGTCTTGGGTCGCCTG-A
gnomAD v4:
5-132369842-ACCCTCCGCGGACGGTCTTGGGTCGCCTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369844_132369871del , CM000667.2:g.132369844_132369871del | GRCh38 |
| NC_000005.9:g.131705536_131705563del , CM000667.1:g.131705536_131705563del | GRCh37 |
| NC_000005.8:g.131733435_131733462del | NCBI36 |
| NG_008982.1:g.5136_5163del | |
| NG_008982.2:g.5141_5168del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.-129_-102del (SLC22A5) | ENSP00000388838.2:n.-129_-102del | |
| ENST00000435065.7:c.-129_-102del (SLC22A5) | ENSP00000402760.2:n.-129_-102del | |
| ENST00000448810.6:c.-129_-102del (SLC22A5) | ENSP00000401860.2:n.-129_-102del | |
| ENST00000686757.1:c.-129_-102del (SLC22A5) | ENSP00000510721.1:n.-129_-102del | |
| ENST00000687740.1:n.6_33del (SLC22A5) | ||
| ENST00000689271.1:c.-129_-102del (SLC22A5) | ENSP00000510797.1:n.-129_-102del | |
| ENST00000690900.1:c.-129_-102del (SLC22A5) | ENSP00000510703.1:n.-129_-102del | |
| ENST00000692413.1:c.-129_-102del (SLC22A5) | ENSP00000509374.1:n.-129_-102del | |
| ENST00000693308.1:c.-129_-102del (SLC22A5) | ENSP00000509770.1:n.-129_-102del | |
| ENST00000693763.1:n.6_33del (SLC22A5) | ||
| ENST00000245407.8:c.-129_-102del (SLC22A5) MANE Select | ENSP00000245407.3:n.-129_-102del | |
| ENST00000245407.7:c.-129_-102del (SLC22A5) | ENSP00000245407.3:n.-129_-102del | |
| NM_001308122.1:c.-129_-102del (SLC22A5) | NP_001295051.1:n.-129_-102del | |
| NM_003060.3:c.-129_-102del (SLC22A5) | NP_003051.1:n.-129_-102del | |
| NR_110997.1:n.47_73+1del (MIR3936HG) | ||
| XR_427718.1:n.141_168del (SLC22A5) | ||
| XR_948290.1:n.141_168del (SLC22A5) | ||
| XR_948291.1:n.141_168del (SLC22A5) | ||
| XR_001742215.1:n.141_168del (SLC22A5) | ||
| XR_001742216.1:n.141_168del (SLC22A5) | ||
| XR_427718.2:n.141_168del (SLC22A5) | ||
| XR_948290.2:n.141_168del (SLC22A5) | ||
| XR_948291.2:n.141_168del (SLC22A5) | ||
| NM_003060.4:c.-129_-102del (SLC22A5) MANE Select | NP_003051.1:n.-129_-102del | |
| NM_001308122.2:c.-129_-102del (SLC22A5) | NP_001295051.1:n.-129_-102del |