Linked Data
dbSNP Id:
rs761750128
ExAC:
10:127477537 GCCAGC / G
gnomAD v2:
10-127477537-GCCAGC-G
gnomAD v3:
10-125788968-GCCAGC-G
gnomAD v4:
10-125788968-GCCAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788969_125788973del , CM000672.2:g.125788969_125788973del | GRCh38 |
| NC_000010.10:g.127477538_127477542del , CM000672.1:g.127477538_127477542del | GRCh37 |
| NC_000010.9:g.127467528_127467532del | NCBI36 |
| NG_011557.1:g.39296_39300del | |
| NG_011557.2:g.39296_39300del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.693_697del | ENSP00000518871.1:p.Leu232ArgfsTer? | |
| ENST00000368797.10:c.693_697del MANE Select | ENSP00000357787.4:p.Leu232ArgfsTer? | |
| ENST00000465577.6:c.713_717del | ||
| ENST00000648427.1:c.*691_*695del | ENSP00000497909.1:n.*691_*695del | |
| ENST00000649536.1:c.693_697del | ENSP00000497817.1:p.Leu232ArgfsTer? | |
| ENST00000650185.1:c.843_847del | ||
| ENST00000650472.1:n.3079_3083del | ||
| ENST00000650524.1:c.606_610del | ENSP00000498108.1:n.606_610del | |
| ENST00000650587.1:c.774_778del | ENSP00000497366.1:p.Leu259ArgfsTer? | |
| ENST00000368786.5:c.693_697del | ENSP00000357775.1:p.Leu232ArgfsTer? | |
| ENST00000368797.8:c.693_697del | ENSP00000357787.4:p.Leu232ArgfsTer? | |
| ENST00000464267.1:n.790_794del | ||
| ENST00000465577.5:n.335_339del | ||
| ENST00000470483.1:n.381_385del | ||
| ENST00000484541.5:n.466_470del | ||
| ENST00000616800.4:c.161-3713_161-3709del | ||
| ENST00000622016.4:c.241-3134_241-3130del | ENSP00000483041.1:n.241-3134_241-3130del | |
| NM_000375.2:c.693_697del | NP_000366.1:p.Leu232ArgfsTer? | |
| XM_005270137.2:c.774_778del | XP_005270194.1:p.Leu259ArgfsTer? | |
| XM_005270138.2:c.693_697del | XP_005270195.1:p.Leu232ArgfsTer? | |
| XM_005270139.2:c.661-3134_661-3130del | XP_005270196.1:n.661-3134_661-3130del | |
| XM_006717960.2:c.774_778del | XP_006718023.1:p.Leu259ArgfsTer? | |
| XM_011540127.1:c.661-3713_661-3709del | XP_011538429.1:n.661-3713_661-3709del | |
| XR_246103.2:n.873_877del | ||
| XR_945810.1:n.1103_1107del | ||
| NM_000375.3:c.693_697del MANE Select | NP_000366.1:p.Leu232ArgfsTer? | |
| NM_001324036.1:c.774_778del | NP_001310965.1:p.Leu259ArgfsTer? | |
| NM_001324037.1:c.693_697del | NP_001310966.1:p.Leu232ArgfsTer? | |
| NM_001324038.1:c.612_616del | NP_001310967.1:p.Leu205ArgfsTer? | |
| NR_136675.1:n.778_782del | ||
| NR_136676.1:n.1205_1209del | ||
| NR_136677.1:n.927-3134_927-3130del | ||
| NR_136678.1:n.689_693del | ||
| XM_011540127.2:c.661-3713_661-3709del | XP_011538429.1:n.661-3713_661-3709del | |
| XM_017016611.2:c.774_778del | XP_016872100.2:p.Leu259ArgfsTer? | |
| XM_017016612.2:c.661-3134_661-3130del | XP_016872101.1:n.661-3134_661-3130del | |
| XM_024448154.1:c.693_697del | XP_024303922.1:p.Leu232ArgfsTer? | |
| XR_002957010.1:n.2032_2036del | ||
| XR_246103.3:n.888_892del | ||
| XR_945810.2:n.1118_1122del | ||
| NM_001324036.2:c.774_778del | NP_001310965.1:p.Leu259ArgfsTer? | |
| NM_001324037.2:c.693_697del | NP_001310966.1:p.Leu232ArgfsTer? | |
| NM_001324038.2:c.612_616del | NP_001310967.1:p.Leu205ArgfsTer? | |
| NR_136675.2:n.768_772del | ||
| NR_136676.2:n.1195_1199del | ||
| NR_136678.2:n.679_683del | ||
| NR_136677.2:n.917-3134_917-3130del |