Linked Data
dbSNP Id:
rs1249843496
gnomAD v2:
11-112064279-C-CA
gnomAD v3:
11-112193556-C-CA
gnomAD v4:
11-112193556-C-CA
MyVariant Identifiers:
chr11:g.112064279_112064280insA (hg19)
chr11:g.112193556_112193557insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112193556_112193557insA , CM000673.2:g.112193556_112193557insA | GRCh38 |
| NC_000011.9:g.112064279_112064280insA , CM000673.1:g.112064279_112064280insA | GRCh37 |
| NC_000011.8:g.111569489_111569490insA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357685.11:c.376_377insA MANE Select | ENSP00000350314.5:p.Leu126HisfsTer4 | |
| ENST00000357685.9:c.376_377insA | ENSP00000350314.5:p.Leu126HisfsTer4 | |
| ENST00000361053.8:c.376_377insA | ENSP00000354338.4:p.Leu126HisfsTer4 | |
| ENST00000438022.5:c.274_275insA | ENSP00000414843.1:p.Leu92HisfsTer4 | |
| ENST00000460924.6:n.468_469insA | ||
| ENST00000494860.5:n.228_229insA | ||
| ENST00000525468.1:n.365_366insA | ||
| ENST00000525987.5:n.719_720insA | ||
| ENST00000526088.5:c.274_275insA | ENSP00000436615.1:p.Leu92HisfsTer4 | |
| ENST00000527939.1:c.*18_*19insA | ENSP00000436956.1:n.*18_*19insA | |
| ENST00000530677.1:c.83_84insA | ||
| ENST00000531169.5:c.274_275insA | ENSP00000437053.1:p.Leu92HisfsTer4 | |
| ENST00000532593.5:c.61_62insA | ENSP00000431802.1:p.Leu21HisfsTer4 | |
| ENST00000532612.5:c.306_307insA | ||
| ENST00000532699.1:c.*138_*139insA | ENSP00000456434.1:n.*138_*139insA | |
| ENST00000534122.5:n.991_992insA | ||
| ENST00000534550.5:c.*18_*19insA | ENSP00000434488.1:n.*18_*19insA | |
| NM_001037290.2:c.274_275insA | NP_001032367.2:p.Leu92HisfsTer4 | |
| NM_001256397.1:c.274_275insA | NP_001243326.1:p.Leu92HisfsTer4 | |
| NM_001256398.1:c.376_377insA | NP_001243327.1:p.Leu126HisfsTer4 | |
| NM_001256400.1:c.61_62insA | NP_001243329.1:p.Leu21HisfsTer4 | |
| NM_031938.5:c.376_377insA | NP_114144.4:p.Leu126HisfsTer4 | |
| NM_001037290.3:c.274_275insA | NP_001032367.3:p.Leu92HisfsTer4 | |
| NM_001256397.2:c.274_275insA | NP_001243326.2:p.Leu92HisfsTer4 | |
| NM_001256398.2:c.376_377insA | NP_001243327.2:p.Leu126HisfsTer4 | |
| NM_001256400.2:c.61_62insA | NP_001243329.2:p.Leu21HisfsTer4 | |
| NM_031938.7:c.376_377insA MANE Select | NP_114144.5:p.Leu126HisfsTer4 | |
| NM_001037290.4:c.274_275insA | NP_001032367.3:p.Leu92HisfsTer4 | |
| NM_001256397.3:c.274_275insA | NP_001243326.2:p.Leu92HisfsTer4 | |
| NM_001256398.3:c.376_377insA | NP_001243327.2:p.Leu126HisfsTer4 | |
| NM_001256400.3:c.61_62insA | NP_001243329.2:p.Leu21HisfsTer4 |