Linked Data
dbSNP Id:
rs1393251101
gnomAD v2:
17-29665871-T-TGATACTGAAA
gnomAD v4:
17-31338853-T-TGATACTGAAA
MyVariant Identifiers:
chr17:g.29665871_29665872insGATACTGAAA (hg19)
chr17:g.31338853_31338854insGATACTGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338855_31338856insTACTGAAAGA , CM000679.2:g.31338855_31338856insTACTGAAAGA | GRCh38 |
| NC_000017.10:g.29665873_29665874insTACTGAAAGA , CM000679.1:g.29665873_29665874insTACTGAAAGA | GRCh37 |
| NC_000017.9:g.26689999_26690000insTACTGAAAGA | NCBI36 |
| NG_009018.1:g.248879_248880insTACTGAAAGA , LRG_214:g.248879_248880insTACTGAAAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6903+50_6903+51insTACTGAAAGA | ENSP00000512431.1:n.6903+50_6903+51insTACTGAAAGA | |
| ENST00000684826.1:c.1485+50_1485+51insTACTGAAAGA | ENSP00000509994.1:n.1485+50_1485+51insTACTGAAAGA | |
| ENST00000684998.1:n.2793_2794insTACTGAAAGA | ||
| ENST00000687027.1:c.1077+50_1077+51insTACTGAAAGA | ENSP00000508715.1:n.1077+50_1077+51insTACTGAAAGA | |
| ENST00000687863.1:n.3566+50_3566+51insTACTGAAAGA | ||
| ENST00000691014.1:c.6951+50_6951+51insTACTGAAAGA | ENSP00000510595.1:n.6951+50_6951+51insTACTGAAAGA | |
| ENST00000693617.1:c.1485+50_1485+51insTACTGAAAGA | ENSP00000510031.1:n.1485+50_1485+51insTACTGAAAGA | |
| ENST00000358273.9:c.6921+50_6921+51insTACTGAAAGA MANE Select | ENSP00000351015.4:n.6921+50_6921+51insTACTGAAAGA | |
| ENST00000356175.7:c.6858+50_6858+51insTACTGAAAGA | ENSP00000348498.3:n.6858+50_6858+51insTACTGAAAGA | |
| ENST00000358273.8:c.6921+50_6921+51insTACTGAAAGA | ENSP00000351015.4:n.6921+50_6921+51insTACTGAAAGA | |
| ENST00000456735.6:c.5856+50_5856+51insTACTGAAAGA | ENSP00000389907.2:n.5856+50_5856+51insTACTGAAAGA | |
| ENST00000471572.6:c.304+50_304+51insTACTGAAAGA | ||
| ENST00000579081.5:c.7057+50_7057+51insTACTGAAAGA | ENSP00000462408.1:n.7057+50_7057+51insTACTGAAAGA | |
| ENST00000581790.5:c.64+975_64+976insTACTGAAAGA | ||
| ENST00000584328.1:n.335+50_335+51insTACTGAAAGA | ||
| NM_000267.3:c.6858+50_6858+51insTACTGAAAGA , LRG_214t1:c.6858+50_6858+51insTACTGAAAGA | NP_000258.1:n.6858+50_6858+51insTACTGAAAGA | |
| NM_001042492.2:c.6921+50_6921+51insTACTGAAAGA , LRG_214t2:c.6921+50_6921+51insTACTGAAAGA | NP_001035957.1:n.6921+50_6921+51insTACTGAAAGA | |
| XM_005257983.1:c.6921+50_6921+51insTACTGAAAGA | XP_005258040.1:n.6921+50_6921+51insTACTGAAAGA | |
| XM_005257984.1:c.6858+50_6858+51insTACTGAAAGA | XP_005258041.1:n.6858+50_6858+51insTACTGAAAGA | |
| XM_006721922.1:c.6951+50_6951+51insTACTGAAAGA | XP_006721985.1:n.6951+50_6951+51insTACTGAAAGA | |
| XM_006721923.2:c.6912+50_6912+51insTACTGAAAGA | XP_006721986.1:n.6912+50_6912+51insTACTGAAAGA | |
| XM_006721924.1:c.6951+50_6951+51insTACTGAAAGA | XP_006721987.1:n.6951+50_6951+51insTACTGAAAGA | |
| XM_006721925.1:c.6888+50_6888+51insTACTGAAAGA | XP_006721988.1:n.6888+50_6888+51insTACTGAAAGA | |
| XM_006721926.2:c.6951+50_6951+51insTACTGAAAGA | XP_006721989.1:n.6951+50_6951+51insTACTGAAAGA | |
| XM_006721927.1:c.6951+50_6951+51insTACTGAAAGA | XP_006721990.1:n.6951+50_6951+51insTACTGAAAGA | |
| XM_011524852.1:c.6948+50_6948+51insTACTGAAAGA | XP_011523154.1:n.6948+50_6948+51insTACTGAAAGA | |
| XM_011524853.1:c.6912+50_6912+51insTACTGAAAGA | XP_011523155.1:n.6912+50_6912+51insTACTGAAAGA | |
| XM_011524854.1:c.6912+50_6912+51insTACTGAAAGA | XP_011523156.1:n.6912+50_6912+51insTACTGAAAGA | |
| XM_011524855.1:c.6912+50_6912+51insTACTGAAAGA | XP_011523157.1:n.6912+50_6912+51insTACTGAAAGA | |
| XM_011524856.1:c.6912+50_6912+51insTACTGAAAGA | XP_011523158.1:n.6912+50_6912+51insTACTGAAAGA | |
| XM_011524857.1:c.6951+50_6951+51insTACTGAAAGA | XP_011523159.1:n.6951+50_6951+51insTACTGAAAGA | |
| NM_001042492.3:c.6921+50_6921+51insTACTGAAAGA MANE Select | NP_001035957.1:n.6921+50_6921+51insTACTGAAAGA |