Linked Data
dbSNP Id:
rs70976562
gnomAD v3:
5-135028549-C-CTT
gnomAD v4:
5-135028549-C-CTT
MyVariant Identifiers:
chr5:g.134364239_134364240insTT (hg19)
chr5:g.135028549_135028550insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028572_135028573dup , CM000667.2:g.135028572_135028573dup | GRCh38 |
| NC_000005.9:g.134364262_134364263dup , CM000667.1:g.134364262_134364263dup | GRCh37 |
| NC_000005.8:g.134392161_134392162dup | NCBI36 |
| NG_012114.1:g.10724_10725dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*228_*229dup MANE Select | ENSP00000265340.6:n.*228_*229dup | |
| ENST00000265340.11:c.*228_*229dup | ENSP00000265340.6:n.*228_*229dup | |
| NM_002653.4:c.*228_*229dup | NP_002644.4:n.*228_*229dup | |
| NM_002653.5:c.*228_*229dup MANE Select | NP_002644.4:n.*228_*229dup |