Linked Data
dbSNP Id:
rs769931499
ExAC:
6:15627654 GTCTT / G
gnomAD v2:
6-15627654-GTCTT-G
gnomAD v4:
6-15627423-GTCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15627425_15627428del , CM000668.2:g.15627425_15627428del | GRCh38 |
| NC_000006.11:g.15627656_15627659del , CM000668.1:g.15627656_15627659del | GRCh37 |
| NC_000006.10:g.15735635_15735638del | NCBI36 |
| NG_009309.1:g.40614_40617del , LRG_588:g.40614_40617del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.271_274del MANE Select | ENSP00000341680.6:p.Lys91GlnfsTer16 | |
| ENST00000338950.9:c.271_274del | ENSP00000344718.5:p.Lys91GlnfsTer16 | |
| ENST00000344537.9:c.271_274del | ENSP00000341680.5:p.Lys91GlnfsTer16 | |
| ENST00000355917.7:c.220_223del | ENSP00000348183.4:p.Lys74GlnfsTer16 | |
| ENST00000506844.1:c.*269_*272del | ENSP00000424202.1:n.*269_*272del | |
| ENST00000510395.5:c.*181_*184del | ENSP00000424685.1:n.*181_*184del | |
| ENST00000511762.2:c.166_169del | ENSP00000427473.2:p.Lys56GlnfsTer16 | |
| ENST00000513680.5:c.*269_*272del | ENSP00000424357.1:n.*269_*272del | |
| ENST00000515875.5:c.220_223del | ENSP00000425495.1:p.Lys74GlnfsTer16 | |
| ENST00000622898.4:c.166_169del | ENSP00000481997.1:p.Lys56GlnfsTer16 | |
| NM_001271667.1:c.28_31del | NP_001258596.1:p.Lys10GlnfsTer16 | |
| NM_001271668.1:c.220_223del | NP_001258597.1:p.Lys74GlnfsTer16 | |
| NM_001271669.1:c.166_169del | NP_001258598.1:p.Lys56GlnfsTer16 | |
| NM_032122.4:c.271_274del , LRG_588t1:c.271_274del | NP_115498.2:p.Lys91GlnfsTer16 | |
| NM_183040.2:c.271_274del , LRG_588t2:c.271_274del | NP_898861.1:p.Lys91GlnfsTer16 | |
| NR_036448.1:n.599_602del | ||
| XM_005249447.3:c.232_235del | XP_005249504.1:p.Lys78GlnfsTer16 | |
| XM_011514936.1:c.181_184del | XP_011513238.1:p.Lys61GlnfsTer16 | |
| XM_005249447.4:c.232_235del | XP_005249504.1:p.Lys78GlnfsTer16 | |
| XM_011514936.3:c.181_184del | XP_011513238.1:p.Lys61GlnfsTer16 | |
| NM_032122.5:c.271_274del MANE Select | NP_115498.2:p.Lys91GlnfsTer16 | |
| NR_036448.2:n.569_572del | ||
| NM_001271667.2:c.28_31del | NP_001258596.1:p.Lys10GlnfsTer16 | |
| NM_001271668.2:c.220_223del | NP_001258597.1:p.Lys74GlnfsTer16 | |
| NM_001271669.2:c.166_169del | NP_001258598.1:p.Lys56GlnfsTer16 | |
| NR_036448.3:n.569_572del |