Linked Data
dbSNP Id:
rs1325962959
gnomAD v2:
11-43728275-G-GTGTGTTGT
gnomAD v3:
11-43706725-G-GTGTGTTGT
gnomAD v4:
11-43706725-G-GTGTGTTGT
MyVariant Identifiers:
chr11:g.43728275_43728276insTGTGTTGT (hg19)
chr11:g.43706725_43706726insTGTGTTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.43706725_43706726insTGTGTTGT , CM000673.2:g.43706725_43706726insTGTGTTGT | GRCh38 |
| NC_000011.9:g.43728275_43728276insTGTGTTGT , CM000673.1:g.43728275_43728276insTGTGTTGT | GRCh37 |
| NC_000011.8:g.43684851_43684852insTGTGTTGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278353.10:c.160+25738_160+25739insTGTGTTGT MANE Select | ENSP00000278353.4:n.160+25738_160+25739insTGTGTTGT | |
| ENST00000527433.6:c.123+25921_123+25922insTGTGTTGT | ENSP00000490749.1:n.123+25921_123+25922insTGTGTTGT | |
| ENST00000636007.1:c.160+25738_160+25739insTGTGTTGT | ENSP00000490822.1:n.160+25738_160+25739insTGTGTTGT | |
| ENST00000636722.1:c.*20+25542_*20+25543insTGTGTTGT | ENSP00000490003.1:n.*20+25542_*20+25543insTGTGTTGT | |
| ENST00000637401.1:c.160+25738_160+25739insTGTGTTGT | ENSP00000490421.1:n.160+25738_160+25739insTGTGTTGT | |
| ENST00000638034.1:c.64+25368_64+25369insTGTGTTGT | ENSP00000490701.1:n.64+25368_64+25369insTGTGTTGT | |
| ENST00000278353.8:c.160+25738_160+25739insTGTGTTGT | ENSP00000278353.4:n.160+25738_160+25739insTGTGTTGT | |
| ENST00000395700.4:c.160+25738_160+25739insTGTGTTGT | ENSP00000379052.4:n.160+25738_160+25739insTGTGTTGT | |
| ENST00000527433.5:n.125+25921_125+25922insTGTGTTGT | ||
| ENST00000529261.5:n.377+33586_377+33587insTGTGTTGT | ||
| ENST00000531185.5:c.160+25738_160+25739insTGTGTTGT | ENSP00000436582.1:n.160+25738_160+25739insTGTGTTGT | |
| ENST00000532864.5:n.282-44186_282-44185insTGTGTTGT | ||
| NM_016142.2:c.160+25738_160+25739insTGTGTTGT | NP_057226.1:n.160+25738_160+25739insTGTGTTGT | |
| XM_011520156.1:c.-63+25542_-63+25543insTGTGTTGT | XP_011518458.1:n.-63+25542_-63+25543insTGTGTTGT | |
| XM_017017881.1:c.64+25368_64+25369insTGTGTTGT | XP_016873370.1:n.64+25368_64+25369insTGTGTTGT | |
| XM_024448571.1:c.-62-44186_-62-44185insTGTGTTGT | XP_024304339.1:n.-62-44186_-62-44185insTGTGTTGT | |
| XM_024448572.1:c.-62-44186_-62-44185insTGTGTTGT | XP_024304340.1:n.-62-44186_-62-44185insTGTGTTGT | |
| XM_024448573.1:c.-62-44186_-62-44185insTGTGTTGT | XP_024304341.1:n.-62-44186_-62-44185insTGTGTTGT | |
| NM_016142.3:c.160+25738_160+25739insTGTGTTGT MANE Select | NP_057226.1:n.160+25738_160+25739insTGTGTTGT |