Linked Data
dbSNP Id:
rs1310580634
gnomAD v2:
9-130630513-GCTGGC-G
gnomAD v3:
9-127868234-GCTGGC-G
gnomAD v4:
9-127868234-GCTGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868238_127868242del , CM000671.2:g.127868238_127868242del | GRCh38 |
| NC_000009.11:g.130630517_130630521del , CM000671.1:g.130630517_130630521del | GRCh37 |
| NC_000009.10:g.129670338_129670342del | NCBI36 |
| NG_011792.1:g.14505_14509del | |
| NG_011792.2:g.14505_14509del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476274.7:n.1016+82_1016+86del | ||
| ENST00000643029.1:c.*2191+82_*2191+86del | ENSP00000496586.1:n.*2191+82_*2191+86del | |
| ENST00000643338.1:c.*2080+82_*2080+86del | ENSP00000495890.1:n.*2080+82_*2080+86del | |
| ENST00000644144.2:c.516+82_516+86del MANE Select | ENSP00000494600.1:n.516+82_516+86del | |
| ENST00000645007.1:c.*2440+82_*2440+86del | ENSP00000494773.1:n.*2440+82_*2440+86del | |
| ENST00000646171.1:c.*549+82_*549+86del | ENSP00000495484.1:n.*549+82_*549+86del | |
| ENST00000223836.10:c.564+82_564+86del | ENSP00000223836.10:n.564+82_564+86del | |
| ENST00000373156.5:c.516+82_516+86del | ENSP00000362249.1:n.516+82_516+86del | |
| ENST00000373176.5:c.516+82_516+86del | ENSP00000362271.1:n.516+82_516+86del | |
| ENST00000413016.5:c.338+82_338+86del | ||
| ENST00000550143.5:c.296+82_296+86del | ENSP00000449130.1:n.296+82_296+86del | |
| NM_000476.2:c.516+82_516+86del | NP_000467.1:n.516+82_516+86del | |
| XM_005251786.2:c.564+82_564+86del | XP_005251843.1:n.564+82_564+86del | |
| XM_011518348.1:c.516+82_516+86del | XP_011516650.1:n.516+82_516+86del | |
| XM_011518349.1:c.336+82_336+86del | XP_011516651.1:n.336+82_336+86del | |
| NM_001318121.1:c.516+82_516+86del | NP_001305050.1:n.516+82_516+86del | |
| NM_001318122.1:c.564+82_564+86del | NP_001305051.1:n.564+82_564+86del | |
| XM_017014428.1:c.516+82_516+86del | XP_016869917.1:n.516+82_516+86del | |
| XM_024447439.1:c.495+82_495+86del | XP_024303207.1:n.495+82_495+86del | |
| XM_024447440.1:c.336+82_336+86del | XP_024303208.1:n.336+82_336+86del | |
| NM_001318122.2:c.564+82_564+86del | NP_001305051.1:n.564+82_564+86del | |
| NM_000476.3:c.516+82_516+86del MANE Select | NP_000467.1:n.516+82_516+86del | |
| NR_174625.1:n.3835+82_3835+86del | ||
| NR_174626.1:n.3678+82_3678+86del | ||
| NR_174627.1:n.3715+82_3715+86del | ||
| NR_174628.1:n.3093+82_3093+86del | ||
| NR_174629.1:n.3038+82_3038+86del | ||
| NR_174630.1:n.3074+82_3074+86del | ||
| NR_174631.1:n.3019+82_3019+86del | ||
| NR_174632.1:n.3108+82_3108+86del |