Linked Data
dbSNP Id:
rs1450663660
gnomAD v2:
22-20127579-G-GTGC
gnomAD v3:
22-20140056-G-GTGC
gnomAD v4:
22-20140056-G-GTGC
MyVariant Identifiers:
chr22:g.20127579_20127580insTGC (hg19)
chr22:g.20140056_20140057insTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20140063_20140065dup , CM000684.2:g.20140063_20140065dup | GRCh38 |
| NC_000022.10:g.20127586_20127588dup , CM000684.1:g.20127586_20127588dup | GRCh37 |
| NC_000022.9:g.18507586_18507588dup | NCBI36 |
| NG_021420.1:g.13223_13225dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334554.12:c.558-52_558-50dup MANE Select | ENSP00000334490.7:n.558-52_558-50dup | |
| ENST00000320602.11:c.384+428_384+430dup | ENSP00000317804.7:n.384+428_384+430dup | |
| ENST00000334554.11:c.558-52_558-50dup | ENSP00000334490.7:n.558-52_558-50dup | |
| ENST00000405930.3:c.558-52_558-50dup | ENSP00000384716.3:n.558-52_558-50dup | |
| ENST00000468112.5:n.58-554_58-552dup | ||
| ENST00000469212.5:n.127_129dup | ||
| NM_001185024.1:c.558-52_558-50dup | NP_001171953.1:n.558-52_558-50dup | |
| NM_013373.3:c.558-52_558-50dup | NP_037505.1:n.558-52_558-50dup | |
| XM_006724239.2:c.558-52_558-50dup | XP_006724302.1:n.558-52_558-50dup | |
| NM_001185024.2:c.558-52_558-50dup | NP_001171953.1:n.558-52_558-50dup | |
| NM_013373.4:c.558-52_558-50dup MANE Select | NP_037505.1:n.558-52_558-50dup |