Linked Data
dbSNP Id:
rs1306842486
gnomAD v2:
19-45855831-G-GGAATTGT
MyVariant Identifiers:
chr19:g.45855831_45855832insGAATTGT (hg19)
chr19:g.45352573_45352574insGAATTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352573_45352574insGAATTGT , CM000681.2:g.45352573_45352574insGAATTGT | GRCh38 |
| NC_000019.9:g.45855831_45855832insGAATTGT , CM000681.1:g.45855831_45855832insGAATTGT | GRCh37 |
| NC_000019.8:g.50547671_50547672insGAATTGT | NCBI36 |
| NG_007067.2:g.23014_23015insACAATTC , LRG_461:g.23014_23015insACAATTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1978_1979insACAATTC | ENSP00000375808.4:p.Ala660AspfsTer? | |
| ENST00000682414.1:c.1978_1979insACAATTC | ENSP00000507019.1:p.Ala660AspfsTer? | |
| ENST00000682508.1:n.2007_2008insACAATTC | ||
| ENST00000684218.1:c.*1236_*1237insACAATTC | ENSP00000507804.1:n.*1236_*1237insACAATTC | |
| ENST00000684264.1:n.1534_1535insACAATTC | ||
| ENST00000684407.1:c.1855_1856insACAATTC | ENSP00000507775.1:p.Ala619AspfsTer? | |
| ENST00000684458.1:c.*464_*465insACAATTC | ENSP00000508260.1:n.*464_*465insACAATTC | |
| ENST00000684468.1:n.1690_1691insACAATTC | ||
| ENST00000391945.10:c.1978_1979insACAATTC MANE Select | ENSP00000375809.4:p.Ala660AspfsTer? | |
| ENST00000646507.1:n.2075_2076insACAATTC | ||
| ENST00000391941.6:c.1906_1907insACAATTC | ENSP00000375805.2:p.Ala636AspfsTer? | |
| ENST00000391942.6:n.1149_1150insACAATTC | ||
| ENST00000391944.7:c.1744_1745insACAATTC | ENSP00000375808.3:p.Ala582AspfsTer? | |
| ENST00000391945.8:c.1978_1979insACAATTC | ENSP00000375809.3:p.Ala660AspfsTer? | |
| ENST00000588652.5:n.2066_2067insACAATTC | ||
| NM_000400.3:c.1978_1979insACAATTC , LRG_461t1:c.1978_1979insACAATTC | NP_000391.1:p.Ala660AspfsTer? | |
| XM_011526611.1:c.1900_1901insACAATTC | XP_011524913.1:p.Ala634AspfsTer? | |
| XM_011526611.2:c.1900_1901insACAATTC | XP_011524913.1:p.Ala634AspfsTer? | |
| XM_017026467.1:c.1855_1856insACAATTC | XP_016881956.1:p.Ala619AspfsTer? | |
| XR_001753633.2:n.2025_2026insACAATTC | ||
| XR_001753634.2:n.1961_1962insACAATTC | ||
| NM_000400.4:c.1978_1979insACAATTC MANE Select | NP_000391.1:p.Ala660AspfsTer? |