Linked Data
ClinVar Variation Id:
554910
ClinVar RCV Id:
RCV000670624
dbSNP Id:
rs782663171
ExAC:
11:118900055 A / AATAGCC
gnomAD v2:
11-118900055-A-AATAGCC
gnomAD v3:
11-119029345-A-AATAGCC
gnomAD v4:
11-119029345-A-AATAGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029352_119029357dup , CM000673.2:g.119029352_119029357dup | GRCh38 |
| NC_000011.9:g.118900062_118900067dup , CM000673.1:g.118900062_118900067dup | GRCh37 |
| NC_000011.8:g.118405272_118405277dup | NCBI36 |
| NG_013331.1:g.6556_6561dup , LRG_187:g.6556_6561dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.248_253dup | ||
| ENST00000697846.1:n.248_253dup | ||
| ENST00000697847.1:n.248_253dup | ||
| ENST00000697848.1:n.248_253dup | ||
| ENST00000697849.1:n.492_497dup | ||
| ENST00000697850.1:n.248_253dup | ||
| ENST00000697851.1:n.492_497dup | ||
| ENST00000638186.1:n.322_327dup | ||
| ENST00000638360.1:n.256_261dup | ||
| ENST00000638925.1:n.255_260dup | ||
| ENST00000650539.1:n.424_429dup | ||
| ENST00000330775.9:c.19_24dup | ENSP00000476242.2:p.Tyr8_Tyr9insGlyTyr | |
| ENST00000357590.9:c.19_24dup | ENSP00000476176.2:p.Tyr8_Tyr9insGlyTyr | |
| ENST00000524428.5:n.19_24dup | ||
| ENST00000525039.5:n.442_447dup | ||
| ENST00000525102.5:n.776_781dup | ||
| ENST00000525372.5:n.19_24dup | ||
| ENST00000525787.1:n.314_319dup | ||
| ENST00000526626.6:n.214_219dup | ||
| ENST00000527992.5:n.246_251dup | ||
| ENST00000529510.5:n.37_42dup | ||
| ENST00000530407.5:n.197+41_197+46dup | ||
| ENST00000532085.1:n.1513_1518dup | ||
| ENST00000532888.6:n.214_219dup | ||
| ENST00000534384.1:n.239_244dup | ||
| ENST00000538950.5:c.-172+41_-172+46dup | ENSP00000475991.2:n.-172+41_-172+46dup | |
| ENST00000545985.5:c.19_24dup | ENSP00000475241.2:p.Tyr8_Tyr9insGlyTyr | |
| NM_001164277.1:c.19_24dup , LRG_187t1:c.19_24dup | NP_001157749.1:p.Tyr8_Tyr9insGlyTyr | |
| NM_001164278.1:c.19_24dup | NP_001157750.1:p.Tyr8_Tyr9insGlyTyr | |
| NM_001164279.1:c.-172+41_-172+46dup | NP_001157751.1:n.-172+41_-172+46dup | |
| NM_001164280.1:c.19_24dup | NP_001157752.1:p.Tyr8_Tyr9insGlyTyr | |
| NM_001467.5:c.19_24dup | NP_001458.1:p.Tyr8_Tyr9insGlyTyr | |
| NM_001164278.2:c.19_24dup | NP_001157750.1:p.Tyr8_Tyr9insGlyTyr | |
| NM_001164279.2:c.-172+41_-172+46dup | NP_001157751.1:n.-172+41_-172+46dup | |
| NM_001164280.2:c.19_24dup | NP_001157752.1:p.Tyr8_Tyr9insGlyTyr | |
| NM_001467.6:c.19_24dup | NP_001458.1:p.Tyr8_Tyr9insGlyTyr | |
| NM_001164277.2:c.19_24dup MANE Select | NP_001157749.1:p.Tyr8_Tyr9insGlyTyr |