Linked Data
dbSNP Id:
rs1184774950
gnomAD v2:
6-31918847-TCTA-T
gnomAD v3:
6-31951070-TCTA-T
gnomAD v4:
6-31951070-TCTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31951073_31951075del , CM000668.2:g.31951073_31951075del | GRCh38 |
| NC_000006.11:g.31918850_31918852del , CM000668.1:g.31918850_31918852del | GRCh37 |
| NC_000006.10:g.32026829_32026831del | NCBI36 |
| NG_008191.1:g.10130_10132del , LRG_136:g.10130_10132del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2343-124_2343-122del | ||
| ENST00000483004.2:c.1640-71_1640-69del | ENSP00000419887.2:n.1640-71_1640-69del | |
| ENST00000698628.1:c.1625-71_1625-69del | ENSP00000513848.1:n.1625-71_1625-69del | |
| ENST00000698629.1:n.2128-124_2128-122del | ||
| ENST00000698630.1:n.2572-71_2572-69del | ||
| ENST00000698631.1:n.2573-71_2573-69del | ||
| ENST00000698632.1:n.3590_3592del | ||
| ENST00000698633.1:n.3480_3482del | ||
| ENST00000425368.7:c.1856-71_1856-69del MANE Select | ENSP00000416561.2:n.1856-71_1856-69del | |
| ENST00000425368.6:c.1856-71_1856-69del | ENSP00000416561.2:n.1856-71_1856-69del | |
| ENST00000456570.5:c.3362-71_3362-69del | ENSP00000410815.1:n.3362-71_3362-69del | |
| ENST00000467360.1:n.982-71_982-69del | ||
| ENST00000477310.1:c.2909-71_2909-69del | ENSP00000418996.1:n.2909-71_2909-69del | |
| ENST00000482312.1:n.200_202del | ||
| ENST00000483004.1:c.478-71_478-69del | ||
| NM_001710.5:c.1856-71_1856-69del , LRG_136t1:c.1856-71_1856-69del | NP_001701.2:n.1856-71_1856-69del | |
| NM_001710.6:c.1856-71_1856-69del MANE Select | NP_001701.2:n.1856-71_1856-69del |