Linked Data
dbSNP Id:
rs767970549
ExAC:
1:24175257 CAATCAGT / C
gnomAD v2:
1-24175257-CAATCAGT-C
gnomAD v4:
1-23848767-CAATCAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848768_23848774del , CM000663.2:g.23848768_23848774del | GRCh38 |
| NC_000001.10:g.24175258_24175264del , CM000663.1:g.24175258_24175264del | GRCh37 |
| NC_000001.9:g.24047845_24047851del | NCBI36 |
| NG_013346.1:g.24596_24602del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1035_1041del MANE Select | ENSP00000363603.3:p.Leu346PhefsTer15 | |
| ENST00000374479.3:c.1035_1041del | ENSP00000363603.3:p.Leu346PhefsTer15 | |
| NM_000147.4:c.1035_1041del | NP_000138.2:p.Leu346PhefsTer15 | |
| XM_005245821.1:c.660_666del | XP_005245878.1:p.Leu221PhefsTer15 | |
| XM_011541167.1:c.402_408del | XP_011539469.1:p.Leu135PhefsTer15 | |
| XM_005245821.3:c.660_666del | XP_005245878.1:p.Leu221PhefsTer15 | |
| XM_011541167.3:c.402_408del | XP_011539469.1:p.Leu135PhefsTer15 | |
| XM_017000905.2:c.732_738del | XP_016856394.1:p.Leu245PhefsTer15 | |
| NM_000147.5:c.1035_1041del MANE Select | NP_000138.2:p.Leu346PhefsTer15 | |
| NR_174379.1:n.1213_1219del | ||
| NR_174380.1:n.1262_1268del | ||
| NR_174381.1:n.1101_1107del | ||
| NR_174382.1:n.1498_1504del |