Linked Data
dbSNP Id:
rs1555809558
ExAC:
19:11240277 C / CTTT
gnomAD v2:
19-11240277-C-CTTT
MyVariant Identifiers:
chr19:g.11240277_11240278insTTT (hg19)
chr19:g.11129601_11129602insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129601_11129602insTTT , CM000681.2:g.11129601_11129602insTTT | GRCh38 |
| NC_000019.9:g.11240277_11240278insTTT , CM000681.1:g.11240277_11240278insTTT | GRCh37 |
| NC_000019.8:g.11101277_11101278insTTT | NCBI36 |
| NG_009060.1:g.45221_45222insTTT , LRG_274:g.45221_45222insTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2736_2737insTTT | ENSP00000252444.6:p.Pro912_Val913insPhe | |
| ENST00000559340.2:c.*547_*548insTTT | ENSP00000453696.2:n.*547_*548insTTT | |
| ENST00000560467.2:c.2358_2359insTTT | ENSP00000453513.2:p.Pro786_Val787insPhe | |
| ENST00000558518.6:c.2478_2479insTTT MANE Select | ENSP00000454071.1:p.Pro826_Val827insPhe | |
| ENST00000252444.9:c.2732_2733insTTT | ||
| ENST00000455727.6:c.1974_1975insTTT | ENSP00000397829.2:p.Pro658_Val659insPhe | |
| ENST00000535915.5:c.2355_2356insTTT | ENSP00000440520.1:p.Pro785_Val786insPhe | |
| ENST00000545707.5:c.1944_1945insTTT | ENSP00000437639.1:p.Pro648_Val649insPhe | |
| ENST00000557933.5:c.2540_2541insTTT | ENSP00000453557.1:p.Pro847_Ser848insLeu | |
| ENST00000558013.5:c.2478_2479insTTT | ENSP00000453346.1:p.Pro826_Val827insPhe | |
| ENST00000558518.5:c.2478_2479insTTT | ENSP00000454071.1:p.Pro826_Val827insPhe | |
| ENST00000560628.1:n.108+1947_108+1948insTTT | ||
| NM_000527.4:c.2478_2479insTTT , LRG_274t1:c.2478_2479insTTT | NP_000518.1:p.Pro826_Val827insPhe | |
| NM_001195798.1:c.2478_2479insTTT | NP_001182727.1:p.Pro826_Val827insPhe | |
| NM_001195799.1:c.2355_2356insTTT | NP_001182728.1:p.Pro785_Val786insPhe | |
| NM_001195800.1:c.1974_1975insTTT | NP_001182729.1:p.Pro658_Val659insPhe | |
| NM_001195803.1:c.1944_1945insTTT | NP_001182732.1:p.Pro648_Val649insPhe | |
| XM_011528010.1:c.2400_2401insTTT | XP_011526312.1:p.Pro800_Val801insPhe | |
| XM_011528011.1:c.2097_2098insTTT | XP_011526313.1:p.Pro699_Val700insPhe | |
| XM_011528010.2:c.2400_2401insTTT | XP_011526312.1:p.Pro800_Val801insPhe | |
| XR_001753685.2:n.2812_2813insTTT | ||
| XR_001753686.2:n.2455_2456insTTT | ||
| NM_000527.5:c.2478_2479insTTT MANE Select | NP_000518.1:p.Pro826_Val827insPhe | |
| NM_001195798.2:c.2478_2479insTTT | NP_001182727.1:p.Pro826_Val827insPhe | |
| NM_001195799.2:c.2355_2356insTTT | NP_001182728.1:p.Pro785_Val786insPhe | |
| NM_001195800.2:c.1974_1975insTTT | NP_001182729.1:p.Pro658_Val659insPhe | |
| NM_001195803.2:c.1944_1945insTTT | NP_001182732.1:p.Pro648_Val649insPhe |