Linked Data
dbSNP Id:
rs749749338
ExAC:
11:1775187 G / GCCAGCC
gnomAD v2:
11-1775187-G-GCCAGCC
gnomAD v3:
11-1753957-G-GCCAGCC
gnomAD v4:
11-1753957-G-GCCAGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753978_1753983dup , CM000673.2:g.1753978_1753983dup | GRCh38 |
| NC_000011.9:g.1775208_1775213dup , CM000673.1:g.1775208_1775213dup | GRCh37 |
| NC_000011.8:g.1731784_1731789dup | NCBI36 |
| NG_008655.1:g.15030_15035dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.972+31_972+36dup MANE Select | ENSP00000236671.2:n.972+31_972+36dup | |
| ENST00000367196.4:c.867+31_867+36dup | ENSP00000356164.4:n.867+31_867+36dup | |
| ENST00000427721.3:c.397+31_397+36dup | ||
| ENST00000429746.2:c.867+31_867+36dup | ENSP00000402586.2:n.867+31_867+36dup | |
| ENST00000433655.6:c.*138+31_*138+36dup | ENSP00000404902.1:n.*138+31_*138+36dup | |
| ENST00000438213.6:c.1089+31_1089+36dup | ENSP00000415036.2:n.1089+31_1089+36dup | |
| ENST00000497544.3:n.619_624dup | ||
| ENST00000636397.1:c.972+31_972+36dup | ENSP00000489910.1:n.972+31_972+36dup | |
| ENST00000636571.1:c.951+31_951+36dup | ENSP00000490770.1:n.951+31_951+36dup | |
| ENST00000636615.1:c.972+31_972+36dup | ENSP00000490014.1:n.972+31_972+36dup | |
| ENST00000636843.1:c.966+31_966+36dup | ENSP00000490897.1:n.966+31_966+36dup | |
| ENST00000637158.1:n.570+31_570+36dup | ||
| ENST00000637381.2:n.3400+31_3400+36dup | ||
| ENST00000637387.1:c.972+31_972+36dup | ENSP00000490598.1:n.972+31_972+36dup | |
| ENST00000637815.2:c.954+31_954+36dup | ENSP00000490344.1:n.954+31_954+36dup | |
| ENST00000637915.1:c.972+31_972+36dup | ENSP00000490471.1:n.972+31_972+36dup | |
| ENST00000637937.1:n.280+31_280+36dup | ||
| ENST00000678991.1:c.*833+31_*833+36dup | ENSP00000503019.1:n.*833+31_*833+36dup | |
| ENST00000236671.6:c.972+31_972+36dup | ENSP00000236671.2:n.972+31_972+36dup | |
| ENST00000427721.2:c.372+31_372+36dup | ENSP00000415840.2:n.372+31_372+36dup | |
| ENST00000429746.1:c.303+31_303+36dup | ENSP00000402586.1:n.303+31_303+36dup | |
| ENST00000433655.5:c.*138+31_*138+36dup | ENSP00000404902.1:n.*138+31_*138+36dup | |
| ENST00000497544.1:n.619_624dup | ||
| NM_001909.4:c.972+31_972+36dup | NP_001900.1:n.972+31_972+36dup | |
| NM_001909.5:c.972+31_972+36dup MANE Select | NP_001900.1:n.972+31_972+36dup |