Linked Data
dbSNP Id:
rs772218155
ExAC:
5:37052425 CTT / C
gnomAD v2:
5-37052425-CTT-C
gnomAD v4:
5-37052323-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37052326_37052327del , CM000667.2:g.37052326_37052327del | GRCh38 |
| NC_000005.9:g.37052428_37052429del , CM000667.1:g.37052428_37052429del | GRCh37 |
| NC_000005.8:g.37088185_37088186del | NCBI36 |
| NG_006987.1:g.180444_180445del | |
| NG_006987.2:g.180444_180445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.7063-40_7063-39del MANE Select | ENSP00000282516.8:n.7063-40_7063-39del | |
| ENST00000652901.1:c.7063-40_7063-39del | ENSP00000499536.1:n.7063-40_7063-39del | |
| ENST00000282516.12:c.7063-40_7063-39del | ENSP00000282516.8:n.7063-40_7063-39del | |
| ENST00000448238.2:c.7063-40_7063-39del | ENSP00000406266.2:n.7063-40_7063-39del | |
| ENST00000514335.1:n.945-40_945-39del | ||
| ENST00000621733.1:c.1-12252_1-12251del | ENSP00000480694.1:n.1-12252_1-12251del | |
| NM_015384.4:c.7063-40_7063-39del | NP_056199.2:n.7063-40_7063-39del | |
| NM_133433.3:c.7063-40_7063-39del | NP_597677.2:n.7063-40_7063-39del | |
| XM_005248280.2:c.7063-40_7063-39del | XP_005248337.1:n.7063-40_7063-39del | |
| XM_005248282.3:c.6319-40_6319-39del | XP_005248339.2:n.6319-40_6319-39del | |
| XM_006714467.2:c.7063-40_7063-39del | XP_006714530.1:n.7063-40_7063-39del | |
| XM_006714468.1:c.6865-40_6865-39del | XP_006714531.1:n.6865-40_6865-39del | |
| XM_011514014.1:c.6682-40_6682-39del | XP_011512316.1:n.6682-40_6682-39del | |
| XM_011514015.1:c.7063-40_7063-39del | XP_011512317.1:n.7063-40_7063-39del | |
| XM_005248280.3:c.7063-40_7063-39del | XP_005248337.1:n.7063-40_7063-39del | |
| XM_005248282.5:c.6403-40_6403-39del | XP_005248339.3:n.6403-40_6403-39del | |
| XM_006714468.2:c.6865-40_6865-39del | XP_006714531.1:n.6865-40_6865-39del | |
| XM_017009329.1:c.7063-40_7063-39del | XP_016864818.1:n.7063-40_7063-39del | |
| XM_017009330.2:c.5446-40_5446-39del | XP_016864819.1:n.5446-40_5446-39del | |
| XM_017009331.1:c.5437-40_5437-39del | XP_016864820.1:n.5437-40_5437-39del | |
| NM_133433.4:c.7063-40_7063-39del MANE Select | NP_597677.2:n.7063-40_7063-39del | |
| NM_015384.5:c.7063-40_7063-39del | NP_056199.2:n.7063-40_7063-39del |