Linked Data
ClinVar Variation Id:
851267
ClinVar RCV Id:
RCV001055626
dbSNP Id:
rs1568373517
gnomAD v2:
17-44115955-TGAG-T
gnomAD v3:
17-46038589-TGAG-T
gnomAD v4:
17-46038589-TGAG-T
MyVariant Identifiers:
chr17:g.44115956_44115958del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46038594_46038596del , CM000679.2:g.46038594_46038596del | GRCh38 |
| NC_000017.10:g.44115960_44115962del , CM000679.1:g.44115960_44115962del | GRCh37 |
| NC_000017.9:g.41471807_41471809del | NCBI36 |
| NG_032784.1:g.191783_191785del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.2487_2489del MANE Select | ENSP00000387393.3:p.Ser830del | |
| ENST00000572904.6:c.2487_2489del | ENSP00000461484.1:p.Ser830del | |
| ENST00000573286.2:n.4170_4172del | ||
| ENST00000574590.6:c.2487_2489del | ENSP00000461812.2:p.Ser830del | |
| ENST00000575318.6:c.2298_2300del | ENSP00000461299.1:p.Ser767del | |
| ENST00000576137.2:n.484_486del | ||
| ENST00000638275.1:c.2298_2300del | ENSP00000492576.1:p.Ser767del | |
| ENST00000639150.1:c.1221_1223del | ENSP00000491906.1:p.Ser408del | |
| ENST00000639467.1:c.150_152del | ENSP00000492741.1:p.Ser51del | |
| ENST00000639531.1:c.2298_2300del | ENSP00000491765.1:p.Ser767del | |
| ENST00000640636.1:c.440_442del | ||
| ENST00000648792.1:c.2487_2489del | ENSP00000497628.1:p.Ser830del | |
| ENST00000262419.10:c.2487_2489del | ENSP00000262419.6:p.Ser830del | |
| ENST00000432791.5:c.2487_2489del | ENSP00000387393.2:p.Ser830del | |
| ENST00000572218.5:n.6704_6706del | ||
| ENST00000572904.5:c.2487_2489del | ENSP00000461484.1:p.Ser830del | |
| ENST00000573286.1:n.343_345del | ||
| ENST00000574590.5:c.2487_2489del | ENSP00000461812.1:p.Ser830del | |
| ENST00000575318.5:c.2298_2300del | ENSP00000461299.1:p.Ser767del | |
| ENST00000576137.1:n.126_128del | ||
| ENST00000576870.5:n.459_461del | ||
| NM_001193465.1:c.2487_2489del | NP_001180394.1:p.Ser830del | |
| NM_001193466.1:c.2487_2489del | NP_001180395.1:p.Ser830del | |
| NM_015443.3:c.2487_2489del | NP_056258.1:p.Ser830del | |
| XM_006721823.1:c.2487_2489del | XP_006721886.1:p.Ser830del | |
| XM_006721824.2:c.2487_2489del | XP_006721887.1:p.Ser830del | |
| XM_011524628.1:c.2487_2489del | XP_011522930.1:p.Ser830del | |
| XM_011524629.1:c.2385_2387del | XP_011522931.1:p.Ser796del | |
| XM_011524630.1:c.2298_2300del | XP_011522932.1:p.Ser767del | |
| XM_011524631.1:c.2298_2300del | XP_011522933.1:p.Ser767del | |
| XM_011524632.1:c.1257_1259del | XP_011522934.1:p.Ser420del | |
| XM_006721823.2:c.2487_2489del | XP_006721886.1:p.Ser830del | |
| XM_006721824.4:c.2487_2489del | XP_006721887.1:p.Ser830del | |
| XM_011524628.3:c.2487_2489del | XP_011522930.1:p.Ser830del | |
| XM_011524629.3:c.2385_2387del | XP_011522931.1:p.Ser796del | |
| XM_011524630.3:c.2298_2300del | XP_011522932.1:p.Ser767del | |
| XM_011524631.3:c.2298_2300del | XP_011522933.1:p.Ser767del | |
| XM_011524632.3:c.1257_1259del | XP_011522934.1:p.Ser420del | |
| XM_017024488.2:c.2298_2300del | XP_016879977.1:p.Ser767del | |
| XM_017024489.1:c.2385_2387del | XP_016879978.1:p.Ser796del | |
| NM_001193466.2:c.2487_2489del | NP_001180395.1:p.Ser830del | |
| NM_015443.4:c.2487_2489del MANE Select | NP_056258.1:p.Ser830del | |
| NM_001193465.2:c.2487_2489del | NP_001180394.1:p.Ser830del | |
| NM_001379198.1:c.2487_2489del | NP_001366127.1:p.Ser830del |