Linked Data
dbSNP Id:
rs1566059686
gnomAD v2:
13-23907637-TTAAGTG-T
gnomAD v4:
13-23333498-TTAAGTG-T
MyVariant Identifiers:
chr13:g.23907638_23907643del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333501_23333506del , CM000675.2:g.23333501_23333506del | GRCh38 |
| NC_000013.10:g.23907640_23907645del , CM000675.1:g.23907640_23907645del | GRCh37 |
| NC_000013.9:g.22805640_22805645del | NCBI36 |
| NG_012342.1:g.105199_105204del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+20281_2185+20286del | ENSP00000508399.1:n.2185+20281_2185+20286del | |
| ENST00000682944.1:c.10399_10404del | ENSP00000507173.1:p.His3467_Leu3468del | |
| ENST00000683210.1:c.2185+20281_2185+20286del | ENSP00000506739.1:n.2185+20281_2185+20286del | |
| ENST00000683270.1:c.6445+3918_6445+3923del | ENSP00000507624.1:n.6445+3918_6445+3923del | |
| ENST00000683367.1:c.2177-4020_2177-4015del | ENSP00000507780.1:n.2177-4020_2177-4015del | |
| ENST00000683489.1:c.2292-3552_2292-3547del | ENSP00000508403.1:n.2292-3552_2292-3547del | |
| ENST00000683680.1:c.2319-3552_2319-3547del | ENSP00000507223.1:n.2319-3552_2319-3547del | |
| ENST00000684163.1:c.2204-4020_2204-4015del | ENSP00000508262.1:n.2204-4020_2204-4015del | |
| ENST00000684196.1:n.4543-4020_4543-4015del | ||
| ENST00000684325.1:c.2186-11830_2186-11825del | ENSP00000508121.1:n.2186-11830_2186-11825del | |
| ENST00000684385.1:c.2221-4020_2221-4015del | ENSP00000507855.1:n.2221-4020_2221-4015del | |
| ENST00000684497.1:c.2186-10860_2186-10855del | ENSP00000507057.1:n.2186-10860_2186-10855del | |
| ENST00000382292.9:c.10372_10377del MANE Select | ENSP00000371729.3:p.His3458_Leu3459del | |
| ENST00000423156.2:c.2186-4020_2186-4015del | ENSP00000390925.2:n.2186-4020_2186-4015del | |
| ENST00000455470.6:c.2432-4020_2432-4015del | ENSP00000406565.2:n.2432-4020_2432-4015del | |
| ENST00000382292.7:c.10372_10377del | ENSP00000371729.3:p.His3458_Leu3459del | |
| ENST00000382298.7:c.10372_10377del | ENSP00000371735.3:p.His3458_Leu3459del | |
| ENST00000402364.1:c.8122_8127del | ENSP00000385844.1:p.His2708_Leu2709del | |
| ENST00000423156.1:c.1058-4020_1058-4015del | ENSP00000390925.1:n.1058-4020_1058-4015del | |
| ENST00000455470.5:c.2130-4020_2130-4015del | ||
| NM_001278055.1:c.9931_9936del | NP_001264984.1:p.His3311_Leu3312del | |
| NM_014363.5:c.10372_10377del | NP_055178.3:p.His3458_Leu3459del | |
| XM_005266338.1:c.10399_10404del | XP_005266395.1:p.His3467_Leu3468del | |
| XM_011535038.1:c.10423_10428del | XP_011533340.1:p.His3475_Leu3476del | |
| XM_011535039.1:c.10390_10395del | XP_011533341.1:p.His3464_Leu3465del | |
| XM_005266338.2:c.10399_10404del | XP_005266395.1:p.His3467_Leu3468del | |
| XM_011535039.2:c.10390_10395del | XP_011533341.1:p.His3464_Leu3465del | |
| XM_017020539.1:c.10363_10368del | XP_016876028.1:p.His3455_Leu3456del | |
| XM_024449337.1:c.10399_10404del | XP_024305105.1:p.His3467_Leu3468del | |
| NM_014363.6:c.10372_10377del MANE Select | NP_055178.3:p.His3458_Leu3459del | |
| NM_001278055.2:c.9931_9936del | NP_001264984.1:p.His3311_Leu3312del |