Linked Data
ClinVar Variation Id:
179643
ClinVar RCV Id:
RCV000156438
dbSNP Id:
rs727505015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75907635_75907640delinsATCCTACATACTTAAAATTTCTT , CM000668.2:g.75907635_75907640delinsATCCTACATACTTAAAATTTCTT | GRCh38 |
| NC_000006.11:g.76617352_76617357delinsATCCTACATACTTAAAATTTCTT , CM000668.1:g.76617352_76617357delinsATCCTACATACTTAAAATTTCTT | GRCh37 |
| NC_000006.10:g.76674072_76674077delinsATCCTACATACTTAAAATTTCTT | NCBI36 |
| NG_009934.1:g.163444_163449delinsATCCTACATACTTAAAATTTCTT | |
| NG_009934.2:g.163443_163448delinsATCCTACATACTTAAAATTTCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369975.6:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | ENSP00000358992.1:p.Ala1047SerfsTer? | |
| ENST00000369977.8:c.3207_3212delinsATCCTACATACTTAAAATTTCTT MANE Select | ENSP00000358994.3:p.Ala1070SerfsTer? | |
| ENST00000369985.9:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | ENSP00000359002.3:p.Ala1047SerfsTer? | |
| ENST00000664640.1:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | ENSP00000499278.1:p.Ala1079SerfsTer? | |
| ENST00000671923.1:c.*1245_*1250delinsATCCTACATACTTAAAATTTCTT | ENSP00000500835.1:n.*1245_*1250delinsATCC... | |
| ENST00000672093.1:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | ENSP00000500710.1:p.Ala1079SerfsTer? | |
| ENST00000672162.1:n.1400_1405delinsATCCTACATACTTAAAATTTCTT | ||
| ENST00000369975.5:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | ENSP00000358992.1:p.Ala1047SerfsTer? | |
| ENST00000369977.7:c.3207_3212delinsATCCTACATACTTAAAATTTCTT | ENSP00000358994.3:p.Ala1070SerfsTer? | |
| ENST00000369981.7:c.3237_3242delinsATCCTACATACTTAAAATTTCTT | ENSP00000358998.4:p.Ala1080SerfsTer? | |
| ENST00000369985.8:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | ENSP00000359002.3:p.Ala1047SerfsTer? | |
| ENST00000430435.1:c.384_389delinsATCCTACATACTTAAAATTTCTT | ENSP00000399406.1:p.Ala129SerfsTer? | |
| ENST00000615563.4:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | ENSP00000478013.1:p.Ala1047SerfsTer? | |
| ENST00000627432.2:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | ENSP00000487348.1:p.Ala1079SerfsTer? | |
| NM_001300899.1:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | NP_001287828.1:p.Ala1047SerfsTer? | |
| NM_004999.3:c.3207_3212delinsATCCTACATACTTAAAATTTCTT | NP_004990.3:p.Ala1070SerfsTer? | |
| XM_005248719.2:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | XP_005248776.1:p.Ala1079SerfsTer? | |
| XM_005248720.2:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | XP_005248777.1:p.Ala1079SerfsTer? | |
| XM_005248721.2:c.3195_3200delinsATCCTACATACTTAAAATTTCTT | XP_005248778.1:p.Ala1066SerfsTer? | |
| XM_005248722.2:c.3207_3212delinsATCCTACATACTTAAAATTTCTT | XP_005248779.1:p.Ala1070SerfsTer? | |
| XM_005248724.2:c.3168_3173delinsATCCTACATACTTAAAATTTCTT | XP_005248781.1:p.Ala1057SerfsTer? | |
| XM_005248726.2:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | XP_005248783.1:p.Ala1047SerfsTer? | |
| XM_005248719.4:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | XP_005248776.1:p.Ala1079SerfsTer? | |
| XM_005248720.4:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | XP_005248777.1:p.Ala1079SerfsTer? | |
| XM_005248721.4:c.3195_3200delinsATCCTACATACTTAAAATTTCTT | XP_005248778.1:p.Ala1066SerfsTer? | |
| XM_005248722.4:c.3207_3212delinsATCCTACATACTTAAAATTTCTT | XP_005248779.1:p.Ala1070SerfsTer? | |
| XM_005248724.4:c.3168_3173delinsATCCTACATACTTAAAATTTCTT | XP_005248781.1:p.Ala1057SerfsTer? | |
| XM_005248726.4:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | XP_005248783.1:p.Ala1047SerfsTer? | |
| XM_017010899.2:c.3168_3173delinsATCCTACATACTTAAAATTTCTT | XP_016866388.1:p.Ala1057SerfsTer? | |
| XM_024446447.1:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | XP_024302215.1:p.Ala1079SerfsTer? | |
| XM_024446448.1:c.3195_3200delinsATCCTACATACTTAAAATTTCTT | XP_024302216.1:p.Ala1066SerfsTer? | |
| NM_004999.4:c.3207_3212delinsATCCTACATACTTAAAATTTCTT MANE Select | NP_004990.3:p.Ala1070SerfsTer? | |
| NM_001300899.2:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | NP_001287828.1:p.Ala1047SerfsTer? | |
| NM_001368136.1:c.3138_3143delinsATCCTACATACTTAAAATTTCTT | NP_001355065.1:p.Ala1047SerfsTer? | |
| NM_001368137.1:c.3195_3200delinsATCCTACATACTTAAAATTTCTT | NP_001355066.1:p.Ala1066SerfsTer? | |
| NM_001368138.1:c.3123_3128delinsATCCTACATACTTAAAATTTCTT | NP_001355067.1:p.Ala1042SerfsTer? | |
| NM_001368865.1:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | NP_001355794.1:p.Ala1079SerfsTer? | |
| NM_001368866.1:c.3234_3239delinsATCCTACATACTTAAAATTTCTT | NP_001355795.1:p.Ala1079SerfsTer? | |
| NR_160538.1:n.3463_3468delinsATCCTACATACTTAAAATTTCTT |