Linked Data
dbSNP Id:
rs745544135
ExAC:
11:111965506 T / TA
gnomAD v2:
11-111965506-T-TA
gnomAD v4:
11-112094782-T-TA
MyVariant Identifiers:
chr11:g.111965506_111965507insA (hg19)
chr11:g.112094782_112094783insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094783dup , CM000673.2:g.112094783dup | GRCh38 |
| NC_000011.9:g.111965507dup , CM000673.1:g.111965507dup | GRCh37 |
| NC_000011.8:g.111470717dup | NCBI36 |
| NG_012337.2:g.12937dup | |
| NG_012337.3:g.12937dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.*54-22dup | ENSP00000432946.2:n.*54-22dup | |
| ENST00000534010.2:c.314+5772dup | ENSP00000433202.2:n.314+5772dup | |
| ENST00000375549.8:c.315-22dup MANE Select | ENSP00000364699.3:n.315-22dup | |
| ENST00000528021.6:c.314+5772dup | ENSP00000432465.1:n.314+5772dup | |
| ENST00000375549.7:c.315-22dup | ENSP00000364699.3:n.315-22dup | |
| ENST00000525291.5:c.198-22dup | ENSP00000436669.1:n.198-22dup | |
| ENST00000525987.5:n.319+5772dup | ||
| ENST00000526592.5:c.*13-22dup | ENSP00000432005.1:n.*13-22dup | |
| ENST00000528021.5:c.314+5772dup | ENSP00000432465.1:n.314+5772dup | |
| ENST00000528048.5:c.170-22dup | ENSP00000436217.1:n.170-22dup | |
| ENST00000528182.5:c.308-22dup | ENSP00000435475.1:n.308-22dup | |
| ENST00000530923.5:c.359-22dup | ||
| ENST00000531744.5:c.314+5772dup | ENSP00000456957.1:n.314+5772dup | |
| ENST00000532699.1:c.314+5772dup | ENSP00000456434.1:n.314+5772dup | |
| ENST00000534010.1:c.145+5772dup | ||
| NM_001276503.1:c.170-22dup | NP_001263432.1:n.170-22dup | |
| NM_001276504.1:c.198-22dup | NP_001263433.1:n.198-22dup | |
| NM_001276506.1:c.*13-22dup | NP_001263435.1:n.*13-22dup | |
| NM_003002.3:c.315-22dup | NP_002993.1:n.315-22dup | |
| NR_077060.1:n.453-22dup | ||
| NM_003002.4:c.315-22dup MANE Select | NP_002993.1:n.315-22dup | |
| NM_001276503.2:c.170-22dup | NP_001263432.1:n.170-22dup | |
| NM_001276504.2:c.198-22dup | NP_001263433.1:n.198-22dup | |
| NM_001276506.2:c.*13-22dup | NP_001263435.1:n.*13-22dup | |
| NR_077060.2:n.404-22dup |