Linked Data
dbSNP Id:
rs774174070
ExAC:
7:42012111 CGCT / C
gnomAD v2:
7-42012111-CGCT-C
gnomAD v4:
7-41972512-CGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41972516_41972518del , CM000669.2:g.41972516_41972518del | GRCh38 |
| NC_000007.13:g.42012115_42012117del , CM000669.1:g.42012115_42012117del | GRCh37 |
| NC_000007.12:g.41978640_41978642del | NCBI36 |
| NG_008434.1:g.269505_269507del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.1925_1927del MANE Select | ENSP00000379258.3:p.Gln642del | |
| ENST00000677288.1:c.1751_1753del | ENSP00000503986.1:p.Gln584del | |
| ENST00000677605.1:c.1925_1927del | ENSP00000503743.1:p.Gln642del | |
| ENST00000678429.1:c.1925_1927del | ENSP00000502957.1:p.Gln642del | |
| ENST00000395925.7:c.1925_1927del | ENSP00000379258.3:p.Gln642del | |
| ENST00000464291.1:n.478_480del | ||
| ENST00000479210.1:n.1902_1904del | ||
| NM_000168.5:c.1925_1927del | NP_000159.3:p.Gln642del | |
| XM_005249703.1:c.1925_1927del | XP_005249760.1:p.Gln642del | |
| XM_005249704.2:c.1925_1927del | XP_005249761.1:p.Gln642del | |
| XM_011515272.1:c.1925_1927del | XP_011513574.1:p.Gln642del | |
| XM_011515273.1:c.1925_1927del | XP_011513575.1:p.Gln642del | |
| XM_011515274.1:c.1748_1750del | XP_011513576.1:p.Gln583del | |
| XM_011515274.2:c.1748_1750del | XP_011513576.1:p.Gln583del | |
| XM_017011997.1:c.1922_1924del | XP_016867486.1:p.Gln641del | |
| NM_000168.6:c.1925_1927del MANE Select | NP_000159.3:p.Gln642del |