Linked Data
ClinVar Variation Id:
2958514
ClinVar RCV Id:
RCV003816737
dbSNP Id:
rs755927938
ExAC:
19:41858915 AGCAGCG / A
gnomAD v2:
19-41858915-AGCAGCG-A
gnomAD v3:
19-41353010-AGCAGCG-A
gnomAD v4:
19-41353010-AGCAGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41353016_41353021del , CM000681.2:g.41353016_41353021del | GRCh38 |
| NC_000019.9:g.41858921_41858926del , CM000681.1:g.41858921_41858926del | GRCh37 |
| NC_000019.8:g.46550761_46550766del | NCBI36 |
| NG_013091.1:g.16158_16163del | |
| NG_013364.1:g.5911_5916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.29_34del (TGFB1) MANE Select | ENSP00000221930.4:p.Pro10_Leu11del | |
| ENST00000600196.2:c.29_34del (TGFB1) | ENSP00000504008.1:p.Pro10_Leu11del | |
| ENST00000677934.1:c.29_34del (TGFB1) | ENSP00000504769.1:p.Pro10_Leu11del | |
| ENST00000221930.5:c.29_34del (TGFB1) | ENSP00000221930.4:p.Pro10_Leu11del | |
| ENST00000539627.5:c.-30+1814_-30+1819del (TMEM91) | ENSP00000441900.1:n.-30+1814_-30+1819del | |
| ENST00000604424.1:n.350+1814_350+1819del | ||
| NM_000660.5:c.29_34del (TGFB1) | NP_000651.3:p.Pro10_Leu11del | |
| XM_011527242.1:c.29_34del (TGFB1) | XP_011525544.1:p.Pro10_Leu11del | |
| NM_000660.6:c.29_34del (TGFB1) | NP_000651.3:p.Pro10_Leu11del | |
| XM_011527242.2:c.29_34del (TGFB1) | XP_011525544.1:p.Pro10_Leu11del | |
| NM_000660.7:c.29_34del (TGFB1) MANE Select | NP_000651.3:p.Pro10_Leu11del |