Linked Data
dbSNP Id:
rs762214685
ExAC:
4:155490774 A / AAAATTT
gnomAD v2:
4-155490774-A-AAAATTT
MyVariant Identifiers:
chr4:g.155490774_155490775insAAATTT (hg19)
chr4:g.154569622_154569623insAAATTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569622_154569623insAAATTT , CM000666.2:g.154569622_154569623insAAATTT | GRCh38 |
| NC_000004.11:g.155490774_155490775insAAATTT , CM000666.1:g.155490774_155490775insAAATTT | GRCh37 |
| NC_000004.10:g.155710224_155710225insAAATTT | NCBI36 |
| NG_008833.1:g.11643_11644insAAATTT , LRG_558:g.11643_11644insAAATTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1067_1068insAAATTT MANE Select | ENSP00000306099.4:p.Tyr356Ter | |
| ENST00000302068.8:c.1067_1068insAAATTT | ENSP00000306099.4:p.Tyr356Ter | |
| ENST00000502545.5:n.939+315_939+316insAAATTT | ||
| ENST00000509493.1:c.410_411insAAATTT | ENSP00000426757.1:p.Tyr137Ter | |
| NM_001184741.1:c.890_891insAAATTT | NP_001171670.1:p.Tyr297Ter | |
| NM_005141.4:c.1067_1068insAAATTT , LRG_558t1:c.1067_1068insAAATTT | NP_005132.2:p.Tyr356Ter | |
| NM_001382759.1:c.935_936insAAATTT | NP_001369688.1:p.Tyr312Ter | |
| NM_001382760.1:c.1067_1068insAAATTT | NP_001369689.1:p.Tyr356Ter | |
| NM_001382761.1:c.1067_1068insAAATTT | NP_001369690.1:p.Tyr356Ter | |
| NM_001382762.1:c.767_768insAAATTT | NP_001369691.1:p.Tyr256Ter | |
| NM_001382763.1:c.1058_1059insAAATTT | NP_001369692.1:p.Tyr353Ter | |
| NM_001382764.1:c.1067_1068insAAATTT | NP_001369693.1:p.Tyr356Ter | |
| NM_001382765.1:c.1067_1068insAAATTT | NP_001369694.1:p.Tyr356Ter | |
| NM_005141.5:c.1067_1068insAAATTT MANE Select | NP_005132.2:p.Tyr356Ter |