Linked Data
dbSNP Id:
rs774336553
ExAC:
8:145740672 CCT / C
gnomAD v2:
8-145740672-CCT-C
gnomAD v4:
8-144515288-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144515290_144515291del , CM000670.2:g.144515290_144515291del | GRCh38 |
| NC_000008.10:g.145740674_145740675del , CM000670.1:g.145740674_145740675del | GRCh37 |
| NC_000008.9:g.145711482_145711483del | NCBI36 |
| NG_016430.1:g.7537_7538del | |
| NG_033083.1:g.2326_2327del | |
| NG_016430.2:g.7537_7538del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688394.1:n.413+36_413+37del | ||
| ENST00000617875.6:c.1390+36_1390+37del MANE Select | ENSP00000482313.2:n.1390+36_1390+37del | |
| ENST00000532846.2:c.275+36_275+37del | ||
| ENST00000617875.4:c.1390+36_1390+37del | ENSP00000482313.1:n.1390+36_1390+37del | |
| ENST00000621189.4:c.319+36_319+37del | ENSP00000483145.1:n.319+36_319+37del | |
| NM_004260.3:c.1390+36_1390+37del | NP_004251.3:n.1390+36_1390+37del | |
| XM_011517380.1:c.1390+36_1390+37del | XP_011515682.1:n.1390+36_1390+37del | |
| XM_011517381.1:c.1294+36_1294+37del | XP_011515683.1:n.1294+36_1294+37del | |
| XM_011517382.1:c.1390+36_1390+37del | XP_011515684.1:n.1390+36_1390+37del | |
| XM_011517383.1:c.1390+36_1390+37del | XP_011515685.1:n.1390+36_1390+37del | |
| XM_011517384.1:c.1390+36_1390+37del | XP_011515686.1:n.1390+36_1390+37del | |
| XM_011517385.1:c.253+36_253+37del | XP_011515687.1:n.253+36_253+37del | |
| XR_928366.1:n.1431+36_1431+37del | ||
| XR_928367.1:n.1431+36_1431+37del | ||
| XR_928368.1:n.1433+36_1433+37del | ||
| XM_011517384.3:c.1390+36_1390+37del | XP_011515686.1:n.1390+36_1390+37del | |
| XM_017013991.2:c.1390+36_1390+37del | XP_016869480.1:n.1390+36_1390+37del | |
| XM_017013992.2:c.1390+36_1390+37del | XP_016869481.1:n.1390+36_1390+37del | |
| XM_017013993.2:c.1390+36_1390+37del | XP_016869482.1:n.1390+36_1390+37del | |
| XM_017013994.2:c.1294+36_1294+37del | XP_016869483.1:n.1294+36_1294+37del | |
| XM_017013995.2:c.1390+36_1390+37del | XP_016869484.1:n.1390+36_1390+37del | |
| XM_017013996.2:c.1390+36_1390+37del | XP_016869485.1:n.1390+36_1390+37del | |
| XM_017013997.2:c.1390+36_1390+37del | XP_016869486.1:n.1390+36_1390+37del | |
| XM_017013998.1:c.1390+36_1390+37del | XP_016869487.1:n.1390+36_1390+37del | |
| XM_017013999.2:c.1390+36_1390+37del | XP_016869488.1:n.1390+36_1390+37del | |
| XM_017014000.1:c.253+36_253+37del | XP_016869489.1:n.253+36_253+37del | |
| XM_017014001.2:c.253+36_253+37del | XP_016869490.1:n.253+36_253+37del | |
| XR_001745626.2:n.1427+36_1427+37del | ||
| XR_001745627.2:n.1427+36_1427+37del | ||
| XR_001745628.2:n.1427+36_1427+37del | ||
| XR_001745629.2:n.1427+36_1427+37del | ||
| XR_001745630.2:n.1427+36_1427+37del | ||
| NM_004260.4:c.1390+36_1390+37del MANE Select | NP_004251.4:n.1390+36_1390+37del |