Linked Data
dbSNP Id:
rs1224347113
gnomAD v2:
15-101113859-T-TAAGAAA
gnomAD v4:
15-100573654-T-TAAGAAA
MyVariant Identifiers:
chr15:g.101113859_101113860insAAGAAA (hg19)
chr15:g.100573654_100573655insAAGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100573654_100573655insAAGAAA , CM000677.2:g.100573654_100573655insAAGAAA | GRCh38 |
| NC_000015.9:g.101113859_101113860insAAGAAA , CM000677.1:g.101113859_101113860insAAGAAA | GRCh37 |
| NC_000015.8:g.98931382_98931383insAAGAAA | NCBI36 |
| NG_034076.1:g.33586_33587insTTTCTT | |
| NG_034076.2:g.34378_34379insTTTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314742.13:c.1218_1219insTTTCTT MANE Select | ENSP00000318423.8:p.Val406_Lys407insPheLeu | |
| ENST00000314742.12:c.1218_1219insTTTCTT | ENSP00000318423.8:p.Val406_Lys407insPheLeu | |
| ENST00000559149.5:n.1375_1376insTTTCTT | ||
| ENST00000560133.5:c.861_862insTTTCTT | ENSP00000454929.1:p.Val287_Lys288insPheLeu | |
| ENST00000560783.1:c.187_188insTTTCTT | ||
| ENST00000561308.5:c.1218_1219insTTTCTT | ENSP00000454200.1:p.Val406_Lys407insPheLeu | |
| NM_001040616.2:c.1218_1219insTTTCTT | NP_001035706.1:p.Met406_Lys407insPheLeu | |
| XM_005254941.1:c.1218_1219insTTTCTT | XP_005254998.1:p.Val406_Lys407insPheLeu | |
| XM_005254943.1:c.1218_1219insTTTCTT | XP_005255000.1:p.Val406_Lys407insPheLeu | |
| XR_243210.2:n.1321_1322insTTTCTT | ||
| XR_429464.2:n.1321_1322insTTTCTT | ||
| XR_931862.1:n.1321_1322insTTTCTT | ||
| XR_931863.1:n.1321_1322insTTTCTT | ||
| XR_931864.1:n.1321_1322insTTTCTT | ||
| NM_001352507.1:c.471_472insTTTCTT | NP_001339436.1:p.Val157_Lys158insPheLeu | |
| NM_001352508.1:c.1173_1174insTTTCTT | NP_001339437.1:p.Val391_Lys392insPheLeu | |
| NR_148017.1:n.1441_1442insTTTCTT | ||
| NR_148018.1:n.1441_1442insTTTCTT | ||
| NR_148019.1:n.1445_1446insTTTCTT | ||
| XM_005254941.2:c.1218_1219insTTTCTT | XP_005254998.1:p.Val406_Lys407insPheLeu | |
| XM_005254943.2:c.1218_1219insTTTCTT | XP_005255000.1:p.Val406_Lys407insPheLeu | |
| XM_017022399.2:c.471_472insTTTCTT | XP_016877888.1:p.Val157_Lys158insPheLeu | |
| XM_017022400.2:c.471_472insTTTCTT | XP_016877889.1:p.Val157_Lys158insPheLeu | |
| XM_024449979.1:c.1218_1219insTTTCTT | XP_024305747.1:p.Val406_Lys407insPheLeu | |
| XM_024449980.1:c.1218_1219insTTTCTT | XP_024305748.1:p.Val406_Lys407insPheLeu | |
| XR_001751346.2:n.2233_2234insTTTCTT | ||
| XR_001751347.2:n.2233_2234insTTTCTT | ||
| XR_001751348.2:n.2233_2234insTTTCTT | ||
| XR_002957655.1:n.2233_2234insTTTCTT | ||
| XR_931862.3:n.2233_2234insTTTCTT | ||
| NM_001040616.3:c.1218_1219insTTTCTT MANE Select | NP_001035706.2:p.Val406_Lys407insPheLeu | |
| NM_001352507.2:c.471_472insTTTCTT | NP_001339436.1:p.Val157_Lys158insPheLeu | |
| NM_001352508.2:c.1173_1174insTTTCTT | NP_001339437.1:p.Val391_Lys392insPheLeu | |
| NR_148017.2:n.1385_1386insTTTCTT | ||
| NR_148018.2:n.1385_1386insTTTCTT | ||
| NR_148019.2:n.1389_1390insTTTCTT |