Linked Data
gnomAD v2:
19-12768074-CTCCAAAG-C
gnomAD v3:
19-12657260-CTCCAAAG-C
gnomAD v4:
19-12657260-CTCCAAAG-C
MyVariant Identifiers:
chr19:g.12768075_12768081del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657261_12657267del , CM000681.2:g.12657261_12657267del | GRCh38 |
| NC_000019.9:g.12768075_12768081del , CM000681.1:g.12768075_12768081del | GRCh37 |
| NC_000019.8:g.12629075_12629081del | NCBI36 |
| NG_008318.1:g.14511_14517del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1419+179_1419+185del MANE Select | ENSP00000395473.2:n.1419+179_1419+185del | |
| ENST00000221363.8:c.1416+179_1416+185del | ENSP00000221363.4:n.1416+179_1416+185del | |
| ENST00000456935.6:c.1419+179_1419+185del | ENSP00000395473.2:n.1419+179_1419+185del | |
| ENST00000466794.5:n.1318+179_1318+185del | ||
| ENST00000495617.1:n.595+179_595+185del | ||
| ENST00000593686.1:c.29+179_29+185del | ||
| ENST00000595880.5:n.16+97_16+103del | ||
| NM_000528.3:c.1419+179_1419+185del | NP_000519.2:n.1419+179_1419+185del | |
| NM_001173498.1:c.1416+179_1416+185del | NP_001166969.1:n.1416+179_1416+185del | |
| XM_005259913.1:c.1422+179_1422+185del | XP_005259970.1:n.1422+179_1422+185del | |
| XM_011528017.1:c.318+179_318+185del | XP_011526319.1:n.318+179_318+185del | |
| XM_005259913.2:c.1422+179_1422+185del | XP_005259970.1:n.1422+179_1422+185del | |
| XM_024451518.1:c.318+179_318+185del | XP_024307286.1:n.318+179_318+185del | |
| NM_000528.4:c.1419+179_1419+185del MANE Select | NP_000519.2:n.1419+179_1419+185del | |
| NM_001173498.2:c.1416+179_1416+185del | NP_001166969.1:n.1416+179_1416+185del |