Linked Data
dbSNP Id:
rs778754984
ExAC:
7:103061212 T / TTA
gnomAD v2:
7-103061212-T-TTA
gnomAD v3:
7-103420765-T-TTA
gnomAD v4:
7-103420765-T-TTA
MyVariant Identifiers:
chr7:g.103061212_103061213insTA (hg19)
chr7:g.103420765_103420766insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103420767_103420768dup , CM000669.2:g.103420767_103420768dup | GRCh38 |
| NC_000007.13:g.103061214_103061215dup , CM000669.1:g.103061214_103061215dup | GRCh37 |
| NC_000007.12:g.102848450_102848451dup | NCBI36 |
| NG_023055.1:g.30411_30412dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306312.8:c.263_264dup MANE Select | ENSP00000304783.3:p.Ser89Ter | |
| ENST00000306312.7:c.263_264dup | ENSP00000304783.3:p.Ser89Ter | |
| ENST00000339444.10:c.263_264dup | ENSP00000342396.6:p.Ser89Ter | |
| ENST00000354356.8:c.263_264dup | ENSP00000346325.5:p.Ser89Ter | |
| ENST00000356767.8:c.263_264dup | ENSP00000349210.4:p.Ser89Ter | |
| ENST00000393723.2:c.263_264dup | ENSP00000377324.1:p.Ser89Ter | |
| ENST00000393727.5:c.263_264dup | ENSP00000377328.1:p.Ser89Ter | |
| ENST00000393729.5:c.263_264dup | ENSP00000377330.1:p.Ser89Ter | |
| ENST00000393730.5:c.263_264dup | ENSP00000377331.1:p.Ser89Ter | |
| ENST00000393735.6:c.263_264dup | ENSP00000377336.2:p.Ser89Ter | |
| ENST00000423416.5:c.263_264dup | ENSP00000389018.1:p.Ser89Ter | |
| ENST00000432958.6:c.263_264dup | ENSP00000389733.2:p.Ser89Ter | |
| ENST00000445809.5:c.263_264dup | ENSP00000396833.1:p.Ser89Ter | |
| ENST00000454864.5:c.263_264dup | ENSP00000416502.1:p.Ser89Ter | |
| ENST00000456463.5:c.263_264dup | ENSP00000395568.1:p.Ser89Ter | |
| ENST00000487407.1:n.525_526dup | ||
| NM_001167962.1:c.263_264dup | NP_001161434.1:p.Ser89Ter | |
| NM_198999.2:c.263_264dup | NP_945350.1:p.Ser89Ter | |
| NM_206883.2:c.263_264dup | NP_996766.1:p.Ser89Ter | |
| NM_206884.2:c.263_264dup | NP_996767.1:p.Ser89Ter | |
| NM_206885.2:c.263_264dup | NP_996768.1:p.Ser89Ter | |
| NR_120441.1:n.445_446dup | ||
| NR_120442.1:n.445_446dup | ||
| NR_120443.1:n.445_446dup | ||
| XM_011516170.1:c.263_264dup | XP_011514472.1:p.Ser89Ter | |
| NM_001321787.1:c.263_264dup | NP_001308716.1:p.Ser89Ter | |
| NR_135801.1:n.525_526dup | ||
| NR_135802.1:n.525_526dup | ||
| XM_011516170.3:c.263_264dup | XP_011514472.1:p.Ser89Ter | |
| XR_001744725.2:n.525_526dup | ||
| XR_001744726.1:n.1315_1316dup | ||
| XR_001744727.2:n.525_526dup | ||
| XR_002956437.1:n.525_526dup | ||
| NM_001321787.2:c.263_264dup | NP_001308716.1:p.Ser89Ter | |
| NM_198999.3:c.263_264dup MANE Select | NP_945350.1:p.Ser89Ter | |
| NM_206883.3:c.263_264dup | NP_996766.1:p.Ser89Ter | |
| NM_206884.3:c.263_264dup | NP_996767.1:p.Ser89Ter | |
| NM_206885.3:c.263_264dup | NP_996768.1:p.Ser89Ter | |
| NR_135802.2:n.555_556dup | ||
| NM_001167962.2:c.263_264dup | NP_001161434.1:p.Ser89Ter | |
| NR_135801.2:n.555_556dup |