Linked Data
dbSNP Id:
rs1801014477
gnomAD v3:
7-150948616-CCTT-C
gnomAD v4:
7-150948616-CCTT-C
MyVariant Identifiers:
chr7:g.150645705_150645707del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948617_150948619del , CM000669.2:g.150948617_150948619del | GRCh38 |
| NC_000007.13:g.150645705_150645707del , CM000669.1:g.150645705_150645707del | GRCh37 |
| NC_000007.12:g.150276638_150276640del | NCBI36 |
| NG_008916.1:g.34308_34310del , LRG_288:g.34308_34310del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3426-76_3426-74del | ||
| ENST00000262186.10:c.2593-76_2593-74del MANE Select | ENSP00000262186.5:n.2593-76_2593-74del | |
| ENST00000330883.9:c.1573-76_1573-74del | ENSP00000328531.4:n.1573-76_1573-74del | |
| ENST00000262186.9:c.2593-76_2593-74del | ENSP00000262186.5:n.2593-76_2593-74del | |
| ENST00000330883.8:c.1573-76_1573-74del | ENSP00000328531.4:n.1573-76_1573-74del | |
| NM_000238.3:c.2593-76_2593-74del , LRG_288t1:c.2593-76_2593-74del | NP_000229.1:n.2593-76_2593-74del | |
| NM_172057.2:c.1573-76_1573-74del , LRG_288t3:c.1573-76_1573-74del | NP_742054.1:n.1573-76_1573-74del | |
| XM_011516185.1:c.2293-76_2293-74del | XP_011514487.1:n.2293-76_2293-74del | |
| XM_011516186.1:c.2593-76_2593-74del | XP_011514488.1:n.2593-76_2593-74del | |
| XM_011516185.2:c.2293-76_2293-74del | XP_011514487.1:n.2293-76_2293-74del | |
| XM_011516186.3:c.2593-76_2593-74del | XP_011514488.1:n.2593-76_2593-74del | |
| XM_017012195.1:c.2443-76_2443-74del | XP_016867684.1:n.2443-76_2443-74del | |
| XM_017012196.1:c.2416-76_2416-74del | XP_016867685.1:n.2416-76_2416-74del | |
| NM_000238.4:c.2593-76_2593-74del MANE Select | NP_000229.1:n.2593-76_2593-74del | |
| NM_172057.3:c.1573-76_1573-74del | NP_742054.1:n.1573-76_1573-74del |