Linked Data
dbSNP Id:
rs199794964
gnomAD v3:
7-103545648-A-ATT
gnomAD v4:
7-103545648-A-ATT
MyVariant Identifiers:
chr7:g.103186095_103186096insTT (hg19)
chr7:g.103545648_103545649insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103545658_103545659dup , CM000669.2:g.103545658_103545659dup | GRCh38 |
| NC_000007.13:g.103186105_103186106dup , CM000669.1:g.103186105_103186106dup | GRCh37 |
| NC_000007.12:g.102973341_102973342dup | NCBI36 |
| NG_011877.1:g.448867_448868dup | |
| NG_011877.2:g.448867_448868dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.6303-306_6303-305dup | ENSP00000388446.3:n.6303-306_6303-305dup | |
| ENST00000428762.6:c.6303-306_6303-305dup MANE Select | ENSP00000392423.1:n.6303-306_6303-305dup | |
| ENST00000679867.1:n.6187-306_6187-305dup | ||
| ENST00000679952.1:n.95-306_95-305dup | ||
| ENST00000681034.1:c.6303-306_6303-305dup | ENSP00000506075.1:n.6303-306_6303-305dup | |
| ENST00000681199.1:n.2071-306_2071-305dup | ||
| ENST00000343529.9:c.6303-306_6303-305dup | ENSP00000345694.5:n.6303-306_6303-305dup | |
| ENST00000424685.2:c.6303-306_6303-305dup | ENSP00000388446.2:n.6303-306_6303-305dup | |
| ENST00000428762.5:c.6303-306_6303-305dup | ENSP00000392423.1:n.6303-306_6303-305dup | |
| NM_005045.3:c.6303-306_6303-305dup | NP_005036.2:n.6303-306_6303-305dup | |
| NM_173054.2:c.6303-306_6303-305dup | NP_774959.1:n.6303-306_6303-305dup | |
| NM_005045.4:c.6303-306_6303-305dup MANE Select | NP_005036.2:n.6303-306_6303-305dup | |
| NM_173054.3:c.6303-306_6303-305dup | NP_774959.1:n.6303-306_6303-305dup |