Linked Data
dbSNP Id:
rs751429319
ExAC:
3:121980335 C / CACTA
gnomAD v2:
3-121980335-C-CACTA
gnomAD v3:
3-122261488-C-CACTA
gnomAD v4:
3-122261488-C-CACTA
MyVariant Identifiers:
chr3:g.121980335_121980336insACTA (hg19)
chr3:g.122261488_122261489insACTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122261491_122261492insAACT , CM000665.2:g.122261491_122261492insAACT | GRCh38 |
| NC_000003.11:g.121980338_121980339insAACT , CM000665.1:g.121980338_121980339insAACT | GRCh37 |
| NC_000003.10:g.123463028_123463029insAACT | NCBI36 |
| NG_009058.1:g.82809_82810insAACT | |
| NG_009058.2:g.82824_82825insAACT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.493-37_493-36insAACT | ENSP00000418685.2:n.493-37_493-36insAACT | |
| ENST00000498619.4:c.493-37_493-36insAACT | ENSP00000420194.1:n.493-37_493-36insAACT | |
| ENST00000638421.1:c.493-37_493-36insAACT | ENSP00000492190.1:n.493-37_493-36insAACT | |
| ENST00000639785.2:c.493-37_493-36insAACT MANE Select | ENSP00000491584.2:n.493-37_493-36insAACT | |
| ENST00000490131.5:c.493-37_493-36insAACT | ENSP00000418685.1:n.493-37_493-36insAACT | |
| ENST00000498619.2:c.493-37_493-36insAACT | ENSP00000420194.1:n.493-37_493-36insAACT | |
| NM_000388.3:c.493-37_493-36insAACT | NP_000379.2:n.493-37_493-36insAACT | |
| NM_001178065.1:c.493-37_493-36insAACT | NP_001171536.1:n.493-37_493-36insAACT | |
| XM_005247836.2:c.493-37_493-36insAACT | XP_005247893.1:n.493-37_493-36insAACT | |
| XM_005247837.2:c.10-37_10-36insAACT | XP_005247894.1:n.10-37_10-36insAACT | |
| XM_006713789.2:c.493-37_493-36insAACT | XP_006713852.1:n.493-37_493-36insAACT | |
| XM_011513237.1:c.493-37_493-36insAACT | XP_011511539.1:n.493-37_493-36insAACT | |
| XM_011513238.1:c.493-37_493-36insAACT | XP_011511540.1:n.493-37_493-36insAACT | |
| XM_011513239.1:c.-96-37_-96-36insAACT | XP_011511541.1:n.-96-37_-96-36insAACT | |
| XM_006713789.3:c.493-37_493-36insAACT | XP_006713852.1:n.493-37_493-36insAACT | |
| XM_017007324.1:c.493-37_493-36insAACT | XP_016862813.1:n.493-37_493-36insAACT | |
| XM_017007325.1:c.493-37_493-36insAACT | XP_016862814.1:n.493-37_493-36insAACT | |
| NM_000388.4:c.493-37_493-36insAACT MANE Select | NP_000379.3:n.493-37_493-36insAACT | |
| NM_001178065.2:c.493-37_493-36insAACT | NP_001171536.2:n.493-37_493-36insAACT |