Linked Data
dbSNP Id:
rs905050365
gnomAD v2:
7-103186115-G-GTCTCAC
gnomAD v3:
7-103545668-G-GTCTCAC
gnomAD v4:
7-103545668-G-GTCTCAC
MyVariant Identifiers:
chr7:g.103186115_103186116insTCTCAC (hg19)
chr7:g.103545668_103545669insTCTCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103545672_103545677dup , CM000669.2:g.103545672_103545677dup | GRCh38 |
| NC_000007.13:g.103186119_103186124dup , CM000669.1:g.103186119_103186124dup | GRCh37 |
| NC_000007.12:g.102973355_102973360dup | NCBI36 |
| NG_011877.1:g.448843_448848dup | |
| NG_011877.2:g.448843_448848dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.6303-330_6303-325dup | ENSP00000388446.3:n.6303-330_6303-325dup | |
| ENST00000428762.6:c.6303-330_6303-325dup MANE Select | ENSP00000392423.1:n.6303-330_6303-325dup | |
| ENST00000679867.1:n.6187-330_6187-325dup | ||
| ENST00000679952.1:n.95-330_95-325dup | ||
| ENST00000681034.1:c.6303-330_6303-325dup | ENSP00000506075.1:n.6303-330_6303-325dup | |
| ENST00000681199.1:n.2071-330_2071-325dup | ||
| ENST00000343529.9:c.6303-330_6303-325dup | ENSP00000345694.5:n.6303-330_6303-325dup | |
| ENST00000424685.2:c.6303-330_6303-325dup | ENSP00000388446.2:n.6303-330_6303-325dup | |
| ENST00000428762.5:c.6303-330_6303-325dup | ENSP00000392423.1:n.6303-330_6303-325dup | |
| NM_005045.3:c.6303-330_6303-325dup | NP_005036.2:n.6303-330_6303-325dup | |
| NM_173054.2:c.6303-330_6303-325dup | NP_774959.1:n.6303-330_6303-325dup | |
| NM_005045.4:c.6303-330_6303-325dup MANE Select | NP_005036.2:n.6303-330_6303-325dup | |
| NM_173054.3:c.6303-330_6303-325dup | NP_774959.1:n.6303-330_6303-325dup |