ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496789_92496790insT , CM000669.2:g.92496789_92496790insT | GRCh38 |
| NC_000007.13:g.92126103_92126104insT , CM000669.1:g.92126103_92126104insT | GRCh37 |
| NC_000007.12:g.91964039_91964040insT | NCBI36 |
| NG_008341.1:g.36742_36743insA | |
| NG_008341.2:g.36742_36743insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2719-13_2719-12insA MANE Select | ENSP00000248633.4:n.2719-13_2719-12insA | |
| ENST00000248633.8:c.2719-13_2719-12insA | ENSP00000248633.4:n.2719-13_2719-12insA | |
| ENST00000428214.5:c.2548-13_2548-12insA | ENSP00000394413.1:n.2548-13_2548-12insA | |
| ENST00000438045.5:c.1753-13_1753-12insA | ENSP00000410438.1:n.1753-13_1753-12insA | |
| ENST00000484913.5:n.2758-13_2758-12insA | ||
| ENST00000496420.5:n.2611-13_2611-12insA | ||
| NM_000466.2:c.2719-13_2719-12insA | NP_000457.1:n.2719-13_2719-12insA | |
| NM_001282677.1:c.2548-13_2548-12insA | NP_001269606.1:n.2548-13_2548-12insA | |
| NM_001282678.1:c.2095-13_2095-12insA | NP_001269607.1:n.2095-13_2095-12insA | |
| XM_005250433.3:c.970-13_970-12insA | XP_005250490.1:n.970-13_970-12insA | |
| XR_242246.3:n.2815-13_2815-12insA | ||
| XM_017012319.2:c.970-13_970-12insA | XP_016867808.1:n.970-13_970-12insA | |
| XR_001744808.2:n.1746-13_1746-12insA | ||
| XR_242246.5:n.2766-13_2766-12insA | ||
| NM_000466.3:c.2719-13_2719-12insA MANE Select | NP_000457.1:n.2719-13_2719-12insA | |
| NM_001282677.2:c.2548-13_2548-12insA | NP_001269606.1:n.2548-13_2548-12insA | |
| NM_001282678.2:c.2095-13_2095-12insA | NP_001269607.1:n.2095-13_2095-12insA |