Linked Data
dbSNP Id:
rs776875362
ExAC:
19:18170742 CTG / C
gnomAD v2:
19-18170742-CTG-C
gnomAD v4:
19-18059932-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18059934_18059935del , CM000681.2:g.18059934_18059935del | GRCh38 |
| NC_000019.9:g.18170744_18170745del , CM000681.1:g.18170744_18170745del | GRCh37 |
| NC_000019.8:g.18031744_18031745del | NCBI36 |
| NG_007366.2:g.44016_44017del , LRG_72:g.44016_44017del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1943_1944del MANE Select | ENSP00000472165.2:p.Thr648ArgfsTer23 | |
| ENST00000593993.6:c.1943_1944del | ENSP00000472165.2:p.Thr648ArgfsTer23 | |
| ENST00000600835.6:c.1943_1944del | ENSP00000470788.1:p.Thr648ArgfsTer23 | |
| NM_001290023.1:c.1943_1944del | NP_001276952.1:p.Thr648ArgfsTer11 | |
| NM_001290024.1:c.2063_2064del | NP_001276953.1:p.Thr688ArgfsTer23 | |
| NM_005535.2:c.1943_1944del | NP_005526.1:p.Thr648ArgfsTer23 | |
| XM_006722741.2:c.2063_2064del | XP_006722804.2:p.Thr688ArgfsTer? | |
| XM_011527966.1:c.2096_2097del | XP_011526268.1:p.Thr699ArgfsTer23 | |
| XM_011527967.1:c.2084_2085del | XP_011526269.1:p.Thr695ArgfsTer23 | |
| XM_011527968.1:c.2075_2076del | XP_011526270.1:p.Thr692ArgfsTer23 | |
| XM_011527969.1:c.2063_2064del | XP_011526271.1:p.Thr688ArgfsTer23 | |
| XM_011527970.1:c.2096_2097del | XP_011526272.1:p.Thr699ArgfsTer? | |
| XM_011527971.1:c.2096_2097del | XP_011526273.1:p.Thr699ArgfsTer23 | |
| XM_011527972.1:c.2096_2097del | XP_011526274.1:p.Thr699ArgfsTer11 | |
| XM_011527973.1:c.1976_1977del | XP_011526275.1:p.Thr659ArgfsTer23 | |
| XM_011527974.1:c.1964_1965del | XP_011526276.1:p.Thr655ArgfsTer23 | |
| XM_011527975.1:c.2063_2064del | XP_011526277.1:p.Thr688ArgfsTer11 | |
| XM_006722741.3:c.2063_2064del | XP_006722804.2:p.Thr688ArgfsTer? | |
| XM_011527966.2:c.2096_2097del | XP_011526268.1:p.Thr699ArgfsTer23 | |
| XM_011527967.2:c.2084_2085del | XP_011526269.1:p.Thr695ArgfsTer23 | |
| XM_011527968.3:c.2075_2076del | XP_011526270.1:p.Thr692ArgfsTer23 | |
| XM_011527969.2:c.2063_2064del | XP_011526271.1:p.Thr688ArgfsTer23 | |
| XM_011527970.2:c.2096_2097del | XP_011526272.1:p.Thr699ArgfsTer? | |
| XM_011527971.3:c.2096_2097del | XP_011526273.1:p.Thr699ArgfsTer23 | |
| XM_011527972.3:c.2096_2097del | XP_011526274.1:p.Thr699ArgfsTer11 | |
| XM_011527973.2:c.1976_1977del | XP_011526275.1:p.Thr659ArgfsTer23 | |
| XM_011527974.2:c.1964_1965del | XP_011526276.1:p.Thr655ArgfsTer23 | |
| XM_011527975.2:c.2063_2064del | XP_011526277.1:p.Thr688ArgfsTer11 | |
| XM_017026762.1:c.1361_1362del | XP_016882251.1:p.Thr454ArgfsTer23 | |
| NM_001290023.2:c.1943_1944del | NP_001276952.1:p.Thr648ArgfsTer11 | |
| NM_005535.3:c.1943_1944del MANE Select | NP_005526.1:p.Thr648ArgfsTer23 |