Linked Data
dbSNP Id:
rs756856137
ExAC:
7:100231014 GC / G
gnomAD v2:
7-100231014-GC-G
gnomAD v3:
7-100633391-GC-G
gnomAD v4:
7-100633391-GC-G
MyVariant Identifiers:
chr7:g.100231015del (hg19)
chr7:g.100633393del (hg38)
chr7:g.100633392del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633397del , CM000669.2:g.100633397del | GRCh38 |
| NC_000007.13:g.100231020del , CM000669.1:g.100231020del | GRCh37 |
| NC_000007.12:g.100068956del | NCBI36 |
| NG_007989.1:g.13159del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.614+24del MANE Select | ENSP00000223051.3:n.614+24del | |
| ENST00000223051.7:c.614+24del | ENSP00000223051.3:n.614+24del | |
| ENST00000431692.5:c.614+24del | ENSP00000413905.1:n.614+24del | |
| ENST00000462107.1:c.614+24del | ENSP00000420525.1:n.614+24del | |
| ENST00000465294.5:n.619+24del | ||
| ENST00000473374.5:n.13del | ||
| ENST00000473571.1:n.17del | ||
| ENST00000475011.1:n.143+24del | ||
| ENST00000476304.5:n.235+24del | ||
| NM_001206855.1:c.101+24del | NP_001193784.1:n.101+24del | |
| NM_003227.3:c.614+24del | NP_003218.2:n.614+24del | |
| XM_005250553.3:c.614+24del | XP_005250610.1:n.614+24del | |
| XM_005250554.3:c.614+24del | XP_005250611.1:n.614+24del | |
| NM_001206855.2:c.101+24del | NP_001193784.1:n.101+24del | |
| XM_005250553.4:c.614+24del | XP_005250610.1:n.614+24del | |
| XM_017012573.1:c.614+24del | XP_016868062.1:n.614+24del | |
| NM_003227.4:c.614+24del MANE Select | NP_003218.2:n.614+24del | |
| NM_001206855.3:c.101+24del | NP_001193784.1:n.101+24del |