Linked Data
dbSNP Id:
rs1353548797
gnomAD v3:
1-212883491-C-CAATA
gnomAD v4:
1-212883491-C-CAATA
MyVariant Identifiers:
chr1:g.213056833_213056834insAATA (hg19)
chr1:g.212883491_212883492insAATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883492_212883495dup , CM000663.2:g.212883492_212883495dup | GRCh38 |
| NC_000001.10:g.213056834_213056837dup , CM000663.1:g.213056834_213056837dup | GRCh37 |
| NC_000001.9:g.211123457_211123460dup | NCBI36 |
| NG_028131.1:g.30238_30241dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1092+54_1092+57dup MANE Select | ENSP00000355938.4:n.1092+54_1092+57dup | |
| ENST00000366971.8:c.1092+54_1092+57dup | ENSP00000355938.4:n.1092+54_1092+57dup | |
| ENST00000419102.1:c.488+54_488+57dup | ||
| ENST00000474693.1:n.317+54_317+57dup | ||
| ENST00000483790.1:n.30+54_30+57dup | ||
| NM_014053.3:c.1092+54_1092+57dup | NP_054772.1:n.1092+54_1092+57dup | |
| XM_011509446.1:c.1092+54_1092+57dup | XP_011507748.1:n.1092+54_1092+57dup | |
| XR_247024.1:n.1266+54_1266+57dup | ||
| XR_426771.1:n.1393+54_1393+57dup | ||
| XM_011509446.3:c.1092+54_1092+57dup | XP_011507748.1:n.1092+54_1092+57dup | |
| XR_247024.3:n.1266+54_1266+57dup | ||
| NM_014053.4:c.1092+54_1092+57dup MANE Select | NP_054772.1:n.1092+54_1092+57dup |