Linked Data
dbSNP Id:
rs148510452
gnomAD v3:
17-40822513-A-ATCCTCCTCC
gnomAD v4:
17-40822513-A-ATCCTCCTCC
MyVariant Identifiers:
chr17:g.38978765_38978766insTCCTCCTCC (hg19)
chr17:g.40822513_40822514insTCCTCCTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40822529_40822537dup , CM000679.2:g.40822529_40822537dup | GRCh38 |
| NC_000017.10:g.38978781_38978789dup , CM000679.1:g.38978781_38978789dup | GRCh37 |
| NC_000017.9:g.36232307_36232315dup | NCBI36 |
| NG_008405.1:g.5090_5098dup | |
| NG_033147.1:g.8438_8446dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269576.6:c.64_72dup (KRT10) MANE Select | ENSP00000269576.5:p.Gly24_Cys25insGlyGlyGly | |
| ENST00000635956.2:c.64_72dup (KRT10) | ENSP00000490524.2:p.Gly24_Cys25insGlyGlyGly | |
| ENST00000269576.5:c.64_72dup (KRT10) | ENSP00000269576.5:p.Gly24_Cys25insGlyGlyGly | |
| ENST00000301665.7:c.-221+3321_-221+3329dup (KRT10-AS1) | ENSP00000301665.3:n.-221+3321_-221+3329dup | |
| ENST00000436612.5:c.-221+3359_-221+3367dup (KRT10-AS1) | ENSP00000390036.1:n.-221+3359_-221+3367dup | |
| ENST00000496847.1:n.49+3321_49+3329dup (KRT10-AS1) | ||
| ENST00000622451.1:c.-221+3250_-221+3258dup (KRT10-AS1) | ENSP00000482364.1:n.-221+3250_-221+3258dup | |
| NM_000421.3:c.64_72dup (KRT10) | NP_000412.3:p.Gly24_Cys25insGlyGlyGly | |
| NM_001195386.1:c.-221+3250_-221+3258dup (KRT10-AS1) | NP_001182315.1:n.-221+3250_-221+3258dup | |
| NM_001195387.1:c.-221+3359_-221+3367dup (KRT10-AS1) | NP_001182316.1:n.-221+3359_-221+3367dup | |
| NM_145274.3:c.-221+3321_-221+3329dup (KRT10-AS1) | NP_660317.2:n.-221+3321_-221+3329dup | |
| XM_005257343.2:c.64_72dup (KRT10) | XP_005257400.1:p.Gly24_Cys25insGlyGlyGly | |
| XM_005257089.4:c.-461+3321_-461+3329dup (KRT10-AS1) | XP_005257146.1:n.-461+3321_-461+3329dup | |
| XM_005257343.3:c.64_72dup (KRT10) | XP_005257400.1:p.Gly24_Cys25insGlyGlyGly | |
| XM_017024253.1:c.-414+3321_-414+3329dup (KRT10-AS1) | XP_016879742.1:n.-414+3321_-414+3329dup | |
| NM_000421.4:c.64_72dup (KRT10) | NP_000412.3:p.Gly24_Cys25insGlyGlyGly | |
| NR_160886.1:n.95+3250_95+3258dup (KRT10-AS1) | ||
| NR_160887.1:n.26+3359_26+3367dup (KRT10-AS1) | ||
| NR_160888.1:n.64+3321_64+3329dup (KRT10-AS1) | ||
| NM_000421.5:c.64_72dup (KRT10) MANE Select | NP_000412.4:p.Gly24_Cys25insGlyGlyGly | |
| NM_001379366.1:c.64_72dup (KRT10) | NP_001366295.1:p.Gly24_Cys25insGlyGlyGly |