Linked Data
dbSNP Id:
rs1375283029
gnomAD v2:
2-263436-GCCGCGACCCCGCGCTCGCCCTGTGGCC-G
gnomAD v3:
2-263436-GCCGCGACCCCGCGCTCGCCCTGTGGCC-G
gnomAD v4:
2-263436-GCCGCGACCCCGCGCTCGCCCTGTGGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.263448_263474del , CM000664.2:g.263448_263474del | GRCh38 |
| NC_000002.11:g.263448_263474del , CM000664.1:g.263448_263474del | GRCh37 |
| NC_000002.10:g.253448_253474del | NCBI36 |
| NG_012035.1:g.3580_3606del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356150.10:c.1+521_1+547del MANE Select | ENSP00000348471.5:n.1+521_1+547del | |
| ENST00000356150.9:c.1+521_1+547del | ENSP00000348471.5:n.1+521_1+547del | |
| ENST00000402632.5:c.-155-677_-155-651del | ENSP00000384910.1:n.-155-677_-155-651del | |
| ENST00000403658.5:c.-422+1319_-422+1345del | ENSP00000383928.1:n.-422+1319_-422+1345del | |
| ENST00000403712.6:c.1+521_1+547del | ENSP00000384276.1:n.1+521_1+547del | |
| ENST00000405430.5:c.-281-91_-281-65del | ENSP00000384269.1:n.-281-91_-281-65del | |
| ENST00000415368.5:c.-313-95_-313-69del | ENSP00000410235.1:n.-313-95_-313-69del | |
| ENST00000454318.1:c.-362+1319_-362+1345del | ENSP00000415723.1:n.-362+1319_-362+1345del | |
| ENST00000462719.1:n.106-2743_106-2717del | ||
| ENST00000463865.5:n.309+621_309+647del | ||
| ENST00000465733.5:n.30-91_30-65del | ||
| ENST00000468321.5:n.42-677_42-651del | ||
| ENST00000471948.5:n.521_547del | ||
| ENST00000472861.1:n.30-91_30-65del | ||
| ENST00000475027.5:n.29+1319_29+1345del | ||
| ENST00000477707.5:n.229-91_229-65del | ||
| ENST00000488044.5:n.85+1319_85+1345del | ||
| ENST00000488979.6:n.27+1079_27+1105del | ||
| ENST00000626873.2:c.-556+681_-556+707del | ENSP00000485824.1:n.-556+681_-556+707del | |
| NM_001159597.2:c.1+521_1+547del | NP_001153069.1:n.1+521_1+547del | |
| NM_001282682.1:c.-422+1319_-422+1345del | NP_001269611.1:n.-422+1319_-422+1345del | |
| NM_015677.3:c.1+521_1+547del | NP_056492.2:n.1+521_1+547del | |
| NR_104223.1:n.42-677_42-651del | ||
| NR_104224.1:n.86-677_86-651del | ||
| NR_104225.1:n.309+621_309+647del | ||
| NM_015677.4:c.1+521_1+547del MANE Select | NP_056492.2:n.1+521_1+547del | |
| NR_104224.2:n.44-677_44-651del | ||
| NM_001159597.3:c.1+521_1+547del | NP_001153069.1:n.1+521_1+547del | |
| NM_001282682.2:c.-422+1319_-422+1345del | NP_001269611.1:n.-422+1319_-422+1345del | |
| NR_104223.2:n.42-677_42-651del | ||
| NR_104224.3:n.44-677_44-651del |