Linked Data
dbSNP Id:
rs1558206604
gnomAD v2:
1-227170746-T-TATA
gnomAD v4:
1-226983045-T-TATA
MyVariant Identifiers:
chr1:g.227170746_227170747insATA (hg19)
chr1:g.226983045_226983046insATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226983045_226983046insATA , CM000663.2:g.226983045_226983046insATA | GRCh38 |
| NC_000001.10:g.227170746_227170747insATA , CM000663.1:g.227170746_227170747insATA | GRCh37 |
| NC_000001.9:g.225237369_225237370insATA | NCBI36 |
| NG_012825.1:g.47809_47810insATA | |
| NG_012825.2:g.90510_90511insATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1080+11_1080+12insATA MANE Select | ENSP00000355739.3:n.1080+11_1080+12insATA | |
| ENST00000366779.6:c.*5807+11_*5807+12insATA | ENSP00000355741.2:n.*5807+11_*5807+12insATA | |
| ENST00000676884.1:c.*5929+11_*5929+12insATA | ENSP00000503200.1:n.*5929+11_*5929+12insATA | |
| ENST00000366777.3:c.1080+11_1080+12insATA | ENSP00000355739.3:n.1080+11_1080+12insATA | |
| ENST00000366778.5:c.924+11_924+12insATA | ENSP00000355740.1:n.924+11_924+12insATA | |
| ENST00000366779.5:c.1080+11_1080+12insATA | ENSP00000355741.1:n.1080+11_1080+12insATA | |
| ENST00000478406.5:n.1070_1071insATA | ||
| ENST00000479852.1:n.28+11_28+12insATA | ||
| ENST00000485462.5:n.470+11_470+12insATA | ||
| NM_020247.4:c.1080+11_1080+12insATA | NP_064632.2:n.1080+11_1080+12insATA | |
| XM_005273201.1:c.1080+11_1080+12insATA | XP_005273258.1:n.1080+11_1080+12insATA | |
| XM_011544238.1:c.1080+11_1080+12insATA | XP_011542540.1:n.1080+11_1080+12insATA | |
| XM_011544239.1:c.1080+11_1080+12insATA | XP_011542541.1:n.1080+11_1080+12insATA | |
| XM_011544240.1:c.1080+11_1080+12insATA | XP_011542542.1:n.1080+11_1080+12insATA | |
| XM_011544241.1:c.1080+11_1080+12insATA | XP_011542543.1:n.1080+11_1080+12insATA | |
| XM_011544239.2:c.1080+11_1080+12insATA | XP_011542541.1:n.1080+11_1080+12insATA | |
| XM_011544241.2:c.1080+11_1080+12insATA | XP_011542543.1:n.1080+11_1080+12insATA | |
| XM_017001852.1:c.1080+11_1080+12insATA | XP_016857341.1:n.1080+11_1080+12insATA | |
| XM_024448517.1:c.1080+11_1080+12insATA | XP_024304285.1:n.1080+11_1080+12insATA | |
| XM_024448518.1:c.1080+11_1080+12insATA | XP_024304286.1:n.1080+11_1080+12insATA | |
| NM_020247.5:c.1080+11_1080+12insATA MANE Select | NP_064632.2:n.1080+11_1080+12insATA |