Linked Data
dbSNP Id:
rs780373622
ExAC:
7:92125986 AAC / A
gnomAD v2:
7-92125986-AAC-A
gnomAD v3:
7-92496672-AAC-A
gnomAD v4:
7-92496672-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496674_92496675del , CM000669.2:g.92496674_92496675del | GRCh38 |
| NC_000007.13:g.92125988_92125989del , CM000669.1:g.92125988_92125989del | GRCh37 |
| NC_000007.12:g.91963924_91963925del | NCBI36 |
| NG_008341.1:g.36858_36859del | |
| NG_008341.2:g.36858_36859del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2783+39_2783+40del MANE Select | ENSP00000248633.4:n.2783+39_2783+40del | |
| ENST00000248633.8:c.2783+39_2783+40del | ENSP00000248633.4:n.2783+39_2783+40del | |
| ENST00000428214.5:c.2612+39_2612+40del | ENSP00000394413.1:n.2612+39_2612+40del | |
| ENST00000438045.5:c.1817+39_1817+40del | ENSP00000410438.1:n.1817+39_1817+40del | |
| ENST00000484913.5:n.2822+39_2822+40del | ||
| ENST00000496420.5:n.2675+39_2675+40del | ||
| NM_000466.2:c.2783+39_2783+40del | NP_000457.1:n.2783+39_2783+40del | |
| NM_001282677.1:c.2612+39_2612+40del | NP_001269606.1:n.2612+39_2612+40del | |
| NM_001282678.1:c.2159+39_2159+40del | NP_001269607.1:n.2159+39_2159+40del | |
| XM_005250433.3:c.1034+39_1034+40del | XP_005250490.1:n.1034+39_1034+40del | |
| XR_242246.3:n.2879+39_2879+40del | ||
| XM_017012319.2:c.1034+39_1034+40del | XP_016867808.1:n.1034+39_1034+40del | |
| XR_001744808.2:n.1810+39_1810+40del | ||
| XR_242246.5:n.2830+39_2830+40del | ||
| NM_000466.3:c.2783+39_2783+40del MANE Select | NP_000457.1:n.2783+39_2783+40del | |
| NM_001282677.2:c.2612+39_2612+40del | NP_001269606.1:n.2612+39_2612+40del | |
| NM_001282678.2:c.2159+39_2159+40del | NP_001269607.1:n.2159+39_2159+40del |