Linked Data
dbSNP Id:
rs552060989
gnomAD v2:
7-92135510-CCTGT-C
gnomAD v3:
7-92506196-CCTGT-C
gnomAD v4:
7-92506196-CCTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506199_92506202del , CM000669.2:g.92506199_92506202del | GRCh38 |
| NC_000007.13:g.92135513_92135516del , CM000669.1:g.92135513_92135516del | GRCh37 |
| NC_000007.12:g.91973449_91973452del | NCBI36 |
| NG_008341.1:g.27332_27335del | |
| NG_008341.2:g.27332_27335del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1900+48_1900+51del MANE Select | ENSP00000248633.4:n.1900+48_1900+51del | |
| ENST00000248633.8:c.1900+48_1900+51del | ENSP00000248633.4:n.1900+48_1900+51del | |
| ENST00000422866.1:c.718+48_718+51del | ||
| ENST00000428214.5:c.1900+48_1900+51del | ENSP00000394413.1:n.1900+48_1900+51del | |
| ENST00000438045.5:c.934+48_934+51del | ENSP00000410438.1:n.934+48_934+51del | |
| ENST00000484913.5:n.1939+48_1939+51del | ||
| ENST00000496420.5:n.1576+48_1576+51del | ||
| NM_000466.2:c.1900+48_1900+51del | NP_000457.1:n.1900+48_1900+51del | |
| NM_001282677.1:c.1900+48_1900+51del | NP_001269606.1:n.1900+48_1900+51del | |
| NM_001282678.1:c.1276+48_1276+51del | NP_001269607.1:n.1276+48_1276+51del | |
| XM_005250433.3:c.151+48_151+51del | XP_005250490.1:n.151+48_151+51del | |
| XR_242246.3:n.1996+48_1996+51del | ||
| XM_017012319.2:c.151+48_151+51del | XP_016867808.1:n.151+48_151+51del | |
| XR_001744808.2:n.927+48_927+51del | ||
| XR_242246.5:n.1947+48_1947+51del | ||
| NM_000466.3:c.1900+48_1900+51del MANE Select | NP_000457.1:n.1900+48_1900+51del | |
| NM_001282677.2:c.1900+48_1900+51del | NP_001269606.1:n.1900+48_1900+51del | |
| NM_001282678.2:c.1276+48_1276+51del | NP_001269607.1:n.1276+48_1276+51del |