Linked Data
dbSNP Id:
rs751499368
gnomAD v2:
2-112754878-TGGTCTATTGGTATCTCACCA-T
gnomAD v4:
2-111997301-TGGTCTATTGGTATCTCACCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111997305_111997324del , CM000664.2:g.111997305_111997324del | GRCh38 |
| NC_000002.11:g.112754882_112754901del , CM000664.1:g.112754882_112754901del | GRCh37 |
| NC_000002.10:g.112471353_112471372del | NCBI36 |
| NG_011607.1:g.103692_103711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.1451-18_1452del | ||
| ENST00000295408.8:c.1451-18_1452del | ||
| ENST00000409780.5:c.923-18_924del | ||
| ENST00000421804.6:c.1451-18_1452del | ||
| ENST00000439966.5:c.*924-18_*925del | ||
| ENST00000616902.4:c.420-18_421del | ||
| NM_006343.2:c.1451-18_1452del | ||
| XM_005263565.3:c.1451-18_1452del | ||
| XM_005263568.3:c.1451-18_1452del | ||
| XM_011510490.1:c.1262-18_1263del | ||
| XM_011510491.1:c.236-18_237del | ||
| XM_005263565.4:c.1451-18_1452del | ||
| XM_005263568.4:c.1451-18_1452del | ||
| XM_011510490.3:c.1262-18_1263del | ||
| XM_017003164.1:c.1262-18_1263del | ||
| XM_017003165.2:c.236-18_237del | ||
| NM_006343.3:c.1451-18_1452del |