Linked Data
dbSNP Id:
rs2148361084
gnomAD v3:
X-139548299-T-TATATTTGACCCA
gnomAD v4:
X-139548299-T-TATATTTGACCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139548299_139548300insATATTTGACCCA , CM000685.2:g.139548299_139548300insATATTTGACCCA | GRCh38 |
| NC_000023.10:g.138630458_138630459insATATTTGACCCA , CM000685.1:g.138630458_138630459insATATTTGACCCA | GRCh37 |
| NC_000023.9:g.138458124_138458125insATATTTGACCCA | NCBI36 |
| NG_007994.1:g.22564_22565insATATTTGACCCA , LRG_556:g.22564_22565insATATTTGACCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.392-64_392-63insATATTTGACCCA MANE Select | ENSP00000218099.2:n.392-64_392-63insATATTTGACCCA | |
| ENST00000643157.1:n.1059-64_1059-63insATATTTGACCCA | ||
| ENST00000218099.6:c.392-64_392-63insATATTTGACCCA | ENSP00000218099.2:n.392-64_392-63insATATTTGACCCA | |
| ENST00000394090.2:c.278-64_278-63insATATTTGACCCA | ENSP00000377650.2:n.278-64_278-63insATATTTGACCCA | |
| ENST00000479617.2:n.345-64_345-63insATATTTGACCCA | ||
| NM_000133.3:c.392-64_392-63insATATTTGACCCA , LRG_556t1:c.392-64_392-63insATATTTGACCCA | NP_000124.1:n.392-64_392-63insATATTTGACCCA | |
| NM_001313913.1:c.278-64_278-63insATATTTGACCCA | NP_001300842.1:n.278-64_278-63insATATTTGACCCA | |
| XM_005262397.3:c.392-2763_392-2762insATATTTGACCCA | XP_005262454.1:n.392-2763_392-2762insATATTTGACCCA | |
| XM_005262397.4:c.392-2763_392-2762insATATTTGACCCA | XP_005262454.1:n.392-2763_392-2762insATATTTGACCCA | |
| NM_000133.4:c.392-64_392-63insATATTTGACCCA MANE Select | NP_000124.1:n.392-64_392-63insATATTTGACCCA | |
| NM_001313913.2:c.278-64_278-63insATATTTGACCCA | NP_001300842.1:n.278-64_278-63insATATTTGACCCA |