Linked Data
ClinVar Variation Id:
961267
ClinVar RCV Id:
RCV001234936
dbSNP Id:
rs765525417
ExAC:
7:100224389 CATTAT / C
gnomAD v2:
7-100224389-CATTAT-C
gnomAD v3:
7-100626766-CATTAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626767_100626771del , CM000669.2:g.100626767_100626771del | GRCh38 |
| NC_000007.13:g.100224390_100224394del , CM000669.1:g.100224390_100224394del | GRCh37 |
| NC_000007.12:g.100062326_100062330del | NCBI36 |
| NG_007989.1:g.19780_19784del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.2128_2132del MANE Select | ENSP00000223051.3:p.Ile710AlafsTer? | |
| ENST00000223051.7:c.2128_2132del | ENSP00000223051.3:p.Ile710AlafsTer? | |
| ENST00000431692.5:c.*803_*807del | ENSP00000413905.1:n.*803_*807del | |
| ENST00000461176.1:n.474_478del | ||
| ENST00000462090.5:n.1164_1168del | ||
| ENST00000462107.1:c.2128_2132del | ENSP00000420525.1:p.Ile710AlafsTer? | |
| ENST00000465294.5:n.2048_2052del | ||
| ENST00000476304.5:n.1749_1753del | ||
| ENST00000490084.5:c.1481_1485del | ||
| NM_001206855.1:c.1615_1619del | NP_001193784.1:p.Ile539AlafsTer? | |
| NM_003227.3:c.2128_2132del | NP_003218.2:p.Ile710AlafsTer? | |
| XM_005250553.3:c.2128_2132del | XP_005250610.1:p.Ile710AlafsTer? | |
| XM_005250554.3:c.2128_2132del | XP_005250611.1:p.Ile710AlafsTer9 | |
| XR_927814.1:n.433+4213_433+4217del | ||
| NM_001206855.2:c.1615_1619del | NP_001193784.1:p.Ile539AlafsTer? | |
| XM_005250553.4:c.2128_2132del | XP_005250610.1:p.Ile710AlafsTer? | |
| XM_017012573.1:c.2128_2132del | XP_016868062.1:p.Ile710AlafsTer? | |
| NM_003227.4:c.2128_2132del MANE Select | NP_003218.2:p.Ile710AlafsTer? | |
| NM_001206855.3:c.1615_1619del | NP_001193784.1:p.Ile539AlafsTer? |