Linked Data
gnomAD v4:
7-19117070-GCCGCCGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117072_19117080del , CM000669.2:g.19117072_19117080del | GRCh38 |
| NC_000007.13:g.19156695_19156703del , CM000669.1:g.19156695_19156703del | GRCh37 |
| NC_000007.12:g.19123220_19123228del | NCBI36 |
| NG_008114.1:g.5594_5602del | |
| NG_008114.2:g.5594_5602del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.243_251del MANE Select | ENSP00000242261.5:p.Gly82_Gly84del | |
| ENST00000242261.5:c.243_251del | ENSP00000242261.5:p.Gly82_Gly84del | |
| ENST00000354571.5:c.40_48del | ||
| NM_000474.3:c.243_251del | NP_000465.1:p.Gly82_Gly84del | |
| XM_011515496.1:c.243_251del | XP_011513798.1:p.Gly82_Gly84del | |
| NR_149001.1:n.594_602del | ||
| NM_000474.4:c.243_251del MANE Select | NP_000465.1:p.Gly82_Gly84del | |
| NR_149001.2:n.558_566del |