Linked Data
dbSNP Id:
rs1236718169
gnomAD v2:
6-129786482-C-CTCTATT
MyVariant Identifiers:
chr6:g.129786482_129786483insTCTATT (hg19)
chr6:g.129465337_129465338insTCTATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129465337_129465338insTCTATT , CM000668.2:g.129465337_129465338insTCTATT | GRCh38 |
| NC_000006.11:g.129786482_129786483insTCTATT , CM000668.1:g.129786482_129786483insTCTATT | GRCh37 |
| NC_000006.10:g.129828175_129828176insTCTATT | NCBI36 |
| NG_008678.1:g.587197_587198insTCTATT , LRG_409:g.587197_587198insTCTATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7300+48_7300+49insTCTATT | ENSP00000481744.2:n.7300+48_7300+49insTCTATT | |
| ENST00000618192.5:c.7564+48_7564+49insTCTATT | ENSP00000480802.2:n.7564+48_7564+49insTCTATT | |
| ENST00000684985.1:n.931+48_931+49insTCTATT | ||
| ENST00000421865.3:c.7300+48_7300+49insTCTATT MANE Select | ENSP00000400365.2:n.7300+48_7300+49insTCTATT | |
| ENST00000421865.2:c.7300+48_7300+49insTCTATT | ENSP00000400365.2:n.7300+48_7300+49insTCTATT | |
| ENST00000617695.4:c.7300+48_7300+49insTCTATT | ENSP00000481744.1:n.7300+48_7300+49insTCTATT | |
| ENST00000618192.4:c.7297+48_7297+49insTCTATT | ENSP00000480802.1:n.7297+48_7297+49insTCTATT | |
| NM_000426.3:c.7300+48_7300+49insTCTATT , LRG_409t1:c.7300+48_7300+49insTCTATT | NP_000417.2:n.7300+48_7300+49insTCTATT | |
| NM_001079823.1:c.7300+48_7300+49insTCTATT | NP_001073291.1:n.7300+48_7300+49insTCTATT | |
| XM_005266981.2:c.7564+48_7564+49insTCTATT | XP_005267038.1:n.7564+48_7564+49insTCTATT | |
| XM_005266982.2:c.7564+48_7564+49insTCTATT | XP_005267039.1:n.7564+48_7564+49insTCTATT | |
| XM_011535820.1:c.7558+48_7558+49insTCTATT | XP_011534122.1:n.7558+48_7558+49insTCTATT | |
| XM_005266981.3:c.7564+48_7564+49insTCTATT | XP_005267038.1:n.7564+48_7564+49insTCTATT | |
| XM_005266982.3:c.7564+48_7564+49insTCTATT | XP_005267039.1:n.7564+48_7564+49insTCTATT | |
| XM_011535820.2:c.7558+48_7558+49insTCTATT | XP_011534122.1:n.7558+48_7558+49insTCTATT | |
| XM_017010851.2:c.7570+48_7570+49insTCTATT | XP_016866340.1:n.7570+48_7570+49insTCTATT | |
| XM_017010852.1:c.5695+48_5695+49insTCTATT | XP_016866341.1:n.5695+48_5695+49insTCTATT | |
| NM_000426.4:c.7300+48_7300+49insTCTATT MANE Select | NP_000417.3:n.7300+48_7300+49insTCTATT | |
| NM_001079823.2:c.7300+48_7300+49insTCTATT | NP_001073291.2:n.7300+48_7300+49insTCTATT |