Linked Data
dbSNP Id:
rs72549356
gnomAD v2:
22-42524929-T-TGGGGCGAAAGGGGCGAAAGGGGCGAAA
gnomAD v3:
22-42128927-T-TGGGGCGAAAGGGGCGAAAGGGGCGAAA
gnomAD v4:
22-42128927-T-TGGGGCGAAAGGGGCGAAAGGGGCGAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128942_42128943insAAAGGGGCGAAAGGGGCGAAAGGGGCG , CM000684.2:g.42128942_42128943insAAAGGGGCGAAAGGGGCGAAAGGGGCG | GRCh38 |
| NC_000022.10:g.42524944_42524945insAAAGGGGCGAAAGGGGCGAAAGGGGCG , CM000684.1:g.42524944_42524945insAAAGGGGCGAAAGGGGCGAAAGGGGCG | GRCh37 |
| NC_000022.9:g.40854888_40854889insAAAGGGGCGAAAGGGGCGAAAGGGGCG | NCBI36 |
| NG_008376.3:g.6064_6065insTTTCGCCCCTTTCGCCCCTTTCGCCCC | |
| NG_008376.4:g.6883_6884insTTTCGCCCCTTTCGCCCCTTTCGCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.369_370insTTTCGCCCCTTTCGCCCCTTTCGCCCC | ENSP00000353241.6:p.Pro123_Asn124insPheArgProPheArgProPheArgP... | |
| ENST00000645361.2:c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC MANE Select | ENSP00000496150.1:p.Pro174_Asn175insPheArgProPheArgProPheArgP... | |
| ENST00000359033.4:c.369_370insTTTCGCCCCTTTCGCCCCTTTCGCCCC | ENSP00000351927.4:p.Pro123_Asn124insPheArgProPheArgProPheArgP... | |
| ENST00000360124.9:c.189_190insTTTCGCCCCTTTCGCCCCTTTCGCCCC | ENSP00000353241.5:p.Pro63_Asn64insPheArgProPheArgProPheArgPro... | |
| ENST00000360608.9:c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC | ENSP00000353820.5:p.Pro174_Asn175insPheArgProPheArgProPheArgP... | |
| ENST00000389970.7:c.456_457insTTTCGCCCCTTTCGCCCCTTTCGCCCC | ENSP00000374620.4:p.Pro152_Asn153insPheArgProPheArgProPheArgP... | |
| ENST00000488442.1:n.1246_1247insTTTCGCCCCTTTCGCCCCTTTCGCCCC | ||
| NM_000106.5:c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC | NP_000097.3:p.Pro174_Asn175insPheArgProPheArgProPheArgPro | |
| NM_001025161.2:c.369_370insTTTCGCCCCTTTCGCCCCTTTCGCCCC | NP_001020332.2:p.Pro123_Asn124insPheArgProPheArgProPheArgPro | |
| XM_011529966.1:c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC | XP_011528268.1:p.Pro174_Asn175insPheArgProPheArgProPheArgPro | |
| XM_011529967.1:c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC | XP_011528269.1:p.Pro174_Asn175insPheArgProPheArgProPheArgPro | |
| XM_011529968.1:c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC | XP_011528270.1:p.Pro174_Asn175insPheArgProPheArgProPheArgPro | |
| XM_011529969.1:c.378_379insTTTCGCCCCTTTCGCCCCTTTCGCCCC | XP_011528271.1:p.Pro126_Asn127insPheArgProPheArgProPheArgPro | |
| XM_011529970.1:c.369_370insTTTCGCCCCTTTCGCCCCTTTCGCCCC | XP_011528272.1:p.Pro123_Asn124insPheArgProPheArgProPheArgPro | |
| XM_011529971.1:c.378_379insTTTCGCCCCTTTCGCCCCTTTCGCCCC | XP_011528273.1:p.Pro126_Asn127insPheArgProPheArgProPheArgPro | |
| XM_011529972.1:c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC | XP_011528274.1:p.Pro174_Asn175insPheArgProPheArgProPheArgPro | |
| NM_000106.6:c.522_523insTTTCGCCCCTTTCGCCCCTTTCGCCCC MANE Select | NP_000097.3:p.Pro174_Asn175insPheArgProPheArgProPheArgPro | |
| NM_001025161.3:c.369_370insTTTCGCCCCTTTCGCCCCTTTCGCCCC | NP_001020332.2:p.Pro123_Asn124insPheArgProPheArgProPheArgPro |