Linked Data
dbSNP Id:
rs1402319378
gnomAD v2:
22-42525637-TGTTTC-T
gnomAD v3:
22-42129635-TGTTTC-T
gnomAD v4:
22-42129635-TGTTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129636_42129640del , CM000684.2:g.42129636_42129640del | GRCh38 |
| NC_000022.10:g.42525638_42525642del , CM000684.1:g.42525638_42525642del | GRCh37 |
| NC_000022.9:g.40855582_40855586del | NCBI36 |
| NG_008376.3:g.5352_5356del | |
| NG_008376.4:g.6171_6175del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.352+98_352+102del | ENSP00000353241.6:n.352+98_352+102del | |
| ENST00000645361.2:c.352+98_352+102del MANE Select | ENSP00000496150.1:n.352+98_352+102del | |
| ENST00000359033.4:c.352+98_352+102del | ENSP00000351927.4:n.352+98_352+102del | |
| ENST00000360124.9:c.172+98_172+102del | ENSP00000353241.5:n.172+98_172+102del | |
| ENST00000360608.9:c.352+98_352+102del | ENSP00000353820.5:n.352+98_352+102del | |
| ENST00000389970.7:c.286+98_286+102del | ENSP00000374620.4:n.286+98_286+102del | |
| ENST00000488442.1:n.1076+98_1076+102del | ||
| NM_000106.5:c.352+98_352+102del | NP_000097.3:n.352+98_352+102del | |
| NM_001025161.2:c.352+98_352+102del | NP_001020332.2:n.352+98_352+102del | |
| XM_011529966.1:c.352+98_352+102del | XP_011528268.1:n.352+98_352+102del | |
| XM_011529967.1:c.352+98_352+102del | XP_011528269.1:n.352+98_352+102del | |
| XM_011529968.1:c.352+98_352+102del | XP_011528270.1:n.352+98_352+102del | |
| XM_011529969.1:c.209+98_209+102del | XP_011528271.1:n.209+98_209+102del | |
| XM_011529970.1:c.352+98_352+102del | XP_011528272.1:n.352+98_352+102del | |
| XM_011529971.1:c.209+98_209+102del | XP_011528273.1:n.209+98_209+102del | |
| XM_011529972.1:c.352+98_352+102del | XP_011528274.1:n.352+98_352+102del | |
| NM_000106.6:c.352+98_352+102del MANE Select | NP_000097.3:n.352+98_352+102del | |
| NM_001025161.3:c.352+98_352+102del | NP_001020332.2:n.352+98_352+102del |