Linked Data
dbSNP Id:
rs758605498
gnomAD v2:
7-100224567-C-CAGGACCCCCGCCTAGCATGGGGACA
gnomAD v3:
7-100626944-C-CAGGACCCCCGCCTAGCATGGGGACA
gnomAD v4:
7-100626944-C-CAGGACCCCCGCCTAGCATGGGGACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626968_100626992dup , CM000669.2:g.100626968_100626992dup | GRCh38 |
| NC_000007.13:g.100224591_100224615dup , CM000669.1:g.100224591_100224615dup | GRCh37 |
| NC_000007.12:g.100062527_100062551dup | NCBI36 |
| NG_007989.1:g.19582_19606dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.1996-66_1996-42dup MANE Select | ENSP00000223051.3:n.1996-66_1996-42dup | |
| ENST00000223051.7:c.1996-66_1996-42dup | ENSP00000223051.3:n.1996-66_1996-42dup | |
| ENST00000431692.5:c.*671-66_*671-42dup | ENSP00000413905.1:n.*671-66_*671-42dup | |
| ENST00000461176.1:n.342-66_342-42dup | ||
| ENST00000462090.5:n.1032-66_1032-42dup | ||
| ENST00000462107.1:c.1996-66_1996-42dup | ENSP00000420525.1:n.1996-66_1996-42dup | |
| ENST00000465294.5:n.1916-66_1916-42dup | ||
| ENST00000476304.5:n.1617-66_1617-42dup | ||
| ENST00000490084.5:c.1349-66_1349-42dup | ||
| NM_001206855.1:c.1483-66_1483-42dup | NP_001193784.1:n.1483-66_1483-42dup | |
| NM_003227.3:c.1996-66_1996-42dup | NP_003218.2:n.1996-66_1996-42dup | |
| XM_005250553.3:c.1996-66_1996-42dup | XP_005250610.1:n.1996-66_1996-42dup | |
| XM_005250554.3:c.1996-66_1996-42dup | XP_005250611.1:n.1996-66_1996-42dup | |
| XR_927814.1:n.434-4188_434-4164dup | ||
| NM_001206855.2:c.1483-66_1483-42dup | NP_001193784.1:n.1483-66_1483-42dup | |
| XM_005250553.4:c.1996-66_1996-42dup | XP_005250610.1:n.1996-66_1996-42dup | |
| XM_017012573.1:c.1996-66_1996-42dup | XP_016868062.1:n.1996-66_1996-42dup | |
| NM_003227.4:c.1996-66_1996-42dup MANE Select | NP_003218.2:n.1996-66_1996-42dup | |
| NM_001206855.3:c.1483-66_1483-42dup | NP_001193784.1:n.1483-66_1483-42dup |