Linked Data
ClinVar Variation Id:
1277236
ClinVar RCV Id:
RCV001690541
dbSNP Id:
rs5785848
gnomAD v2:
10-69955546-GC-G
gnomAD v3:
10-68195789-GC-G
gnomAD v4:
10-68195789-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195790del , CM000672.2:g.68195790del | GRCh38 |
| NC_000010.10:g.69955547del , CM000672.1:g.69955547del | GRCh37 |
| NC_000010.9:g.69625553del | NCBI36 |
| NG_032118.1:g.94674del , LRG_410:g.94674del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2333+258del | ENSP00000346369.2:n.2333+258del | |
| ENST00000540630.6:c.3212+258del | ENSP00000441668.3:n.3212+258del | |
| ENST00000613327.5:c.3158+258del | ENSP00000480757.2:n.3158+258del | |
| ENST00000688812.1:c.*421+258del | ENSP00000510658.1:n.*421+258del | |
| ENST00000690544.1:c.*2429+258del | ENSP00000508989.1:n.*2429+258del | |
| ENST00000358913.10:c.3158+258del MANE Select | ENSP00000351790.5:n.3158+258del | |
| ENST00000354393.6:c.2333+258del | ENSP00000346369.2:n.2333+258del | |
| ENST00000358913.9:c.3158+258del | ENSP00000351790.5:n.3158+258del | |
| ENST00000540630.5:c.3158+258del | ENSP00000441668.2:n.3158+258del | |
| ENST00000613327.4:c.2276+258del | ENSP00000480757.1:n.2276+258del | |
| NM_001256267.1:c.3158+258del | NP_001243196.1:n.3158+258del | |
| NM_001256268.1:c.2276+258del | NP_001243197.1:n.2276+258del | |
| NM_032578.3:c.3158+258del , LRG_410t1:c.3158+258del | NP_115967.2:n.3158+258del | |
| NR_045662.3:n.2585+258del | ||
| NR_045663.3:n.3287+258del | ||
| XM_006718043.2:c.3212+258del | XP_006718106.1:n.3212+258del | |
| XM_011540292.1:c.3188+258del | XP_011538594.1:n.3188+258del | |
| XM_017016833.1:c.3236+258del | XP_016872322.1:n.3236+258del | |
| XM_017016834.2:c.3158+258del | XP_016872323.1:n.3158+258del | |
| XM_024448236.1:c.2036+258del | XP_024304004.1:n.2036+258del | |
| NR_045662.4:n.2695+258del | ||
| NR_045663.4:n.3232+258del | ||
| NM_001256267.2:c.3158+258del | NP_001243196.1:n.3158+258del | |
| NM_001256268.2:c.2276+258del | NP_001243197.1:n.2276+258del | |
| NM_032578.4:c.3158+258del MANE Select | NP_115967.2:n.3158+258del |