Linked Data
dbSNP Id:
rs1400020261
gnomAD v2:
11-108016980-A-AAT
gnomAD v4:
11-108146253-A-AAT
MyVariant Identifiers:
chr11:g.108016980_108016981insAT (hg19)
chr11:g.108146253_108146254insAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108146254_108146255dup , CM000673.2:g.108146254_108146255dup | GRCh38 |
| NC_000011.9:g.108016981_108016982dup , CM000673.1:g.108016981_108016982dup | GRCh37 |
| NC_000011.8:g.107522191_107522192dup | NCBI36 |
| NG_009888.1:g.29724_29725dup | |
| NG_009888.2:g.34550_34551dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.1058_1059dup MANE Select | ENSP00000265838.4:p.Glu354MetfsTer9 | |
| ENST00000671707.1:n.1153_1154dup | ||
| ENST00000672031.1:c.*45_*46dup | ENSP00000500463.1:n.*45_*46dup | |
| ENST00000672284.1:c.788_789dup | ENSP00000500444.1:p.Glu264MetfsTer9 | |
| ENST00000672354.1:c.1058_1059dup | ENSP00000500490.1:p.Glu354MetfsTer9 | |
| ENST00000672367.1:c.695_696dup | ENSP00000500209.1:p.Glu233MetfsTer9 | |
| ENST00000672580.1:c.*313_*314dup | ENSP00000500366.1:n.*313_*314dup | |
| ENST00000672907.1:c.743_744dup | ENSP00000500928.1:p.Glu249MetfsTer9 | |
| ENST00000673000.1:n.1146_1147dup | ||
| ENST00000673531.1:c.788_789dup | ENSP00000500163.1:p.Glu264MetfsTer9 | |
| ENST00000265838.8:c.1058_1059dup | ENSP00000265838.4:p.Glu354MetfsTer9 | |
| ENST00000533597.1:n.134_135dup | ||
| NM_000019.3:c.1058_1059dup | NP_000010.1:p.Glu354MetfsTer9 | |
| XM_006718834.2:c.788_789dup | XP_006718897.1:p.Glu264MetfsTer9 | |
| XM_006718835.2:c.788_789dup | XP_006718898.1:p.Glu264MetfsTer9 | |
| XM_006718835.3:c.788_789dup | XP_006718898.1:p.Glu264MetfsTer9 | |
| XM_017017681.1:c.788_789dup | XP_016873170.1:p.Glu264MetfsTer9 | |
| XM_017017682.2:c.680_681dup | XP_016873171.1:p.Glu228MetfsTer9 | |
| XM_017017683.2:c.680_681dup | XP_016873172.1:p.Glu228MetfsTer9 | |
| XM_024448511.1:c.788_789dup | XP_024304279.1:p.Glu264MetfsTer9 | |
| XM_024448512.1:c.788_789dup | XP_024304280.1:p.Glu264MetfsTer9 | |
| XM_024448513.1:c.788_789dup | XP_024304281.1:p.Glu264MetfsTer9 | |
| XM_024448514.1:c.788_789dup | XP_024304282.1:p.Glu264MetfsTer9 | |
| XM_024448515.1:c.788_789dup | XP_024304283.1:p.Glu264MetfsTer9 | |
| NM_000019.4:c.1058_1059dup MANE Select | NP_000010.1:p.Glu354MetfsTer9 | |
| NM_001386677.1:c.1058_1059dup | NP_001373606.1:p.Glu354MetfsTer9 | |
| NM_001386678.1:c.743_744dup | NP_001373607.1:p.Glu249MetfsTer9 | |
| NM_001386679.1:c.761_762dup | NP_001373608.1:p.Glu255MetfsTer9 | |
| NM_001386681.1:c.788_789dup | NP_001373610.1:p.Glu264MetfsTer9 | |
| NM_001386682.1:c.788_789dup | NP_001373611.1:p.Glu264MetfsTer9 | |
| NM_001386685.1:c.788_789dup | NP_001373614.1:p.Glu264MetfsTer9 | |
| NM_001386686.1:c.788_789dup | NP_001373615.1:p.Glu264MetfsTer9 | |
| NM_001386687.1:c.788_789dup | NP_001373616.1:p.Glu264MetfsTer9 | |
| NM_001386688.1:c.788_789dup | NP_001373617.1:p.Glu264MetfsTer9 | |
| NM_001386689.1:c.788_789dup | NP_001373618.1:p.Glu264MetfsTer9 | |
| NM_001386690.1:c.788_789dup | NP_001373619.1:p.Glu264MetfsTer9 | |
| NM_001386691.1:c.788_789dup | NP_001373620.1:p.Glu264MetfsTer9 | |
| NR_170162.1:n.1033_1034dup | ||
| NR_170163.1:n.1091_1092dup |