Linked Data
dbSNP Id:
rs1431007858
gnomAD v2:
6-396572-TCCTGCACTCCTTTACCC-T
gnomAD v3:
6-396572-TCCTGCACTCCTTTACCC-T
gnomAD v4:
6-396572-TCCTGCACTCCTTTACCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.396575_396591del , CM000668.2:g.396575_396591del | GRCh38 |
| NC_000006.11:g.396575_396591del , CM000668.1:g.396575_396591del | GRCh37 |
| NC_000006.10:g.341575_341591del | NCBI36 |
| NG_027728.1:g.9837_9853del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493114.2:c.493-536_493-520del | ENSP00000436094.2:n.493-536_493-520del | |
| ENST00000696871.1:c.493-536_493-520del | ENSP00000512940.1:n.493-536_493-520del | |
| ENST00000696872.1:c.553-533_553-517del | ENSP00000512941.1:n.553-533_553-517del | |
| ENST00000696873.1:c.58-533_58-517del | ENSP00000512942.1:n.58-533_58-517del | |
| ENST00000380956.9:c.493-533_493-517del MANE Select | ENSP00000370343.4:n.493-533_493-517del | |
| ENST00000380956.8:c.493-533_493-517del | ENSP00000370343.4:n.493-533_493-517del | |
| ENST00000493114.1:c.493-533_493-517del | ENSP00000436094.1:n.493-533_493-517del | |
| ENST00000495137.5:n.319-533_319-517del | ||
| NM_001195286.1:c.493-536_493-520del | NP_001182215.1:n.493-536_493-520del | |
| NM_002460.3:c.493-533_493-517del | NP_002451.2:n.493-533_493-517del | |
| NR_046000.2:n.619-536_619-520del | ||
| XM_006715090.1:c.493-533_493-517del | XP_006715153.1:n.493-533_493-517del | |
| XM_006715090.2:c.493-533_493-517del | XP_006715153.1:n.493-533_493-517del | |
| NM_002460.4:c.493-533_493-517del MANE Select | NP_002451.2:n.493-533_493-517del | |
| NM_001195286.2:c.493-536_493-520del | NP_001182215.1:n.493-536_493-520del | |
| NR_046000.3:n.606-536_606-520del |