Linked Data
dbSNP Id:
rs1159650345
gnomAD v3:
19-45352124-GGTGGGGA-G
gnomAD v4:
19-45352124-GGTGGGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352133_45352139del , CM000681.2:g.45352133_45352139del | GRCh38 |
| NC_000019.9:g.45855391_45855397del , CM000681.1:g.45855391_45855397del | GRCh37 |
| NC_000019.8:g.50547231_50547237del | NCBI36 |
| NG_007067.2:g.23457_23463del , LRG_461:g.23457_23463del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2268_2274del | ENSP00000375808.4:p.Pro757LeufsTer? | |
| ENST00000682414.1:c.2190+78_2190+84del | ENSP00000507019.1:n.2190+78_2190+84del | |
| ENST00000682508.1:n.2219+78_2219+84del | ||
| ENST00000684218.1:c.*1448+78_*1448+84del | ENSP00000507804.1:n.*1448+78_*1448+84del | |
| ENST00000684264.1:n.1746+78_1746+84del | ||
| ENST00000684407.1:c.2067+78_2067+84del | ENSP00000507775.1:n.2067+78_2067+84del | |
| ENST00000684458.1:c.*676+78_*676+84del | ENSP00000508260.1:n.*676+78_*676+84del | |
| ENST00000684468.1:n.1902+78_1902+84del | ||
| ENST00000391945.10:c.2190+78_2190+84del MANE Select | ENSP00000375809.4:n.2190+78_2190+84del | |
| ENST00000646507.1:n.2287+78_2287+84del | ||
| ENST00000391942.6:n.1361+78_1361+84del | ||
| ENST00000391944.7:c.1956+78_1956+84del | ENSP00000375808.3:n.1956+78_1956+84del | |
| ENST00000391945.8:c.2190+78_2190+84del | ENSP00000375809.3:n.2190+78_2190+84del | |
| ENST00000588652.5:n.2278+78_2278+84del | ||
| NM_000400.3:c.2190+78_2190+84del , LRG_461t1:c.2190+78_2190+84del | NP_000391.1:n.2190+78_2190+84del | |
| XM_011526611.1:c.2112+78_2112+84del | XP_011524913.1:n.2112+78_2112+84del | |
| XM_011526611.2:c.2112+78_2112+84del | XP_011524913.1:n.2112+78_2112+84del | |
| XM_017026467.1:c.2067+78_2067+84del | XP_016881956.1:n.2067+78_2067+84del | |
| XR_001753633.2:n.2237+78_2237+84del | ||
| XR_001753634.2:n.2173+78_2173+84del | ||
| NM_000400.4:c.2190+78_2190+84del MANE Select | NP_000391.1:n.2190+78_2190+84del |