Linked Data
dbSNP Id:
rs1322201259
MyVariant Identifiers:
chr4:g.157720170_157720171insAG (hg19)
chr4:g.156799018_156799019insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.156799020_156799021dup , CM000666.2:g.156799020_156799021dup | GRCh38 |
| NC_000004.11:g.157720172_157720173dup , CM000666.1:g.157720172_157720173dup | GRCh37 |
| NC_000004.10:g.157939622_157939623dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502773.6:c.495+11817_495+11818dup MANE Select | ENSP00000422464.1:n.495+11817_495+11818dup | |
| ENST00000274071.6:c.*403+11817_*403+11818dup | ENSP00000274071.2:n.*403+11817_*403+11818dup | |
| ENST00000422544.2:c.495+11817_495+11818dup | ENSP00000410048.2:n.495+11817_495+11818dup | |
| ENST00000502773.5:c.495+11817_495+11818dup | ENSP00000422464.1:n.495+11817_495+11818dup | |
| ENST00000506880.5:c.149+11817_149+11818dup | ||
| ENST00000511985.1:n.55+11817_55+11818dup | ||
| ENST00000512711.1:n.418-26127_418-26126dup | ||
| NM_016205.2:c.495+11817_495+11818dup | NP_057289.1:n.495+11817_495+11818dup | |
| NR_036641.1:n.1047+11817_1047+11818dup | ||
| XM_011532124.1:c.462+11817_462+11818dup | XP_011530426.1:n.462+11817_462+11818dup | |
| XM_011532125.1:c.426+11817_426+11818dup | XP_011530427.1:n.426+11817_426+11818dup | |
| XM_011532124.2:c.462+11817_462+11818dup | XP_011530426.1:n.462+11817_462+11818dup | |
| XM_017008455.1:c.390+11817_390+11818dup | XP_016863944.1:n.390+11817_390+11818dup | |
| XM_017008456.2:c.495+11817_495+11818dup | XP_016863945.1:n.495+11817_495+11818dup | |
| NM_016205.3:c.495+11817_495+11818dup MANE Select | NP_057289.1:n.495+11817_495+11818dup | |
| NR_036641.2:n.1452+11817_1452+11818dup |