Linked Data
dbSNP Id:
rs1466717592
gnomAD v2:
7-92125988-CAG-C
gnomAD v3:
7-92496674-CAG-C
gnomAD v4:
7-92496674-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496677_92496678del , CM000669.2:g.92496677_92496678del | GRCh38 |
| NC_000007.13:g.92125991_92125992del , CM000669.1:g.92125991_92125992del | GRCh37 |
| NC_000007.12:g.91963927_91963928del | NCBI36 |
| NG_008341.1:g.36856_36857del | |
| NG_008341.2:g.36856_36857del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2783+37_2783+38del MANE Select | ENSP00000248633.4:n.2783+37_2783+38del | |
| ENST00000248633.8:c.2783+37_2783+38del | ENSP00000248633.4:n.2783+37_2783+38del | |
| ENST00000428214.5:c.2612+37_2612+38del | ENSP00000394413.1:n.2612+37_2612+38del | |
| ENST00000438045.5:c.1817+37_1817+38del | ENSP00000410438.1:n.1817+37_1817+38del | |
| ENST00000484913.5:n.2822+37_2822+38del | ||
| ENST00000496420.5:n.2675+37_2675+38del | ||
| NM_000466.2:c.2783+37_2783+38del | NP_000457.1:n.2783+37_2783+38del | |
| NM_001282677.1:c.2612+37_2612+38del | NP_001269606.1:n.2612+37_2612+38del | |
| NM_001282678.1:c.2159+37_2159+38del | NP_001269607.1:n.2159+37_2159+38del | |
| XM_005250433.3:c.1034+37_1034+38del | XP_005250490.1:n.1034+37_1034+38del | |
| XR_242246.3:n.2879+37_2879+38del | ||
| XM_017012319.2:c.1034+37_1034+38del | XP_016867808.1:n.1034+37_1034+38del | |
| XR_001744808.2:n.1810+37_1810+38del | ||
| XR_242246.5:n.2830+37_2830+38del | ||
| NM_000466.3:c.2783+37_2783+38del MANE Select | NP_000457.1:n.2783+37_2783+38del | |
| NM_001282677.2:c.2612+37_2612+38del | NP_001269606.1:n.2612+37_2612+38del | |
| NM_001282678.2:c.2159+37_2159+38del | NP_001269607.1:n.2159+37_2159+38del |