Linked Data
gnomAD v2:
19-39068763-T-TCCCCCCCC
gnomAD v4:
19-38578123-T-TCCCCCCCC
MyVariant Identifiers:
chr19:g.39068763_39068764insCCCCCCCC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578127_38578128insCCCCCCCC , CM000681.2:g.38578127_38578128insCCCCCCCC | GRCh38 |
| NC_000019.9:g.39068767_39068768insCCCCCCCC , CM000681.1:g.39068767_39068768insCCCCCCCC | GRCh37 |
| NC_000019.8:g.43760607_43760608insCCCCCCCC | NCBI36 |
| NG_008866.1:g.149428_149429insCCCCCCCC , LRG_766:g.149428_149429insCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1240-17_1240-16insCCCCCCCC | ||
| ENST00000688602.1:c.2637-17_2637-16insCCCCCCCC | ||
| ENST00000689936.1:c.2609-17_2609-16insCCCCCCCC | ||
| ENST00000359596.8:c.14304-17_14304-16insCCCCCCCC MANE Select | ENSP00000352608.2:n.14304-17_14304-16insCCCCCCCC | |
| ENST00000355481.8:c.14289-17_14289-16insCCCCCCCC | ENSP00000347667.3:n.14289-17_14289-16insCCCCCCCC | |
| ENST00000359596.7:c.14304-17_14304-16insCCCCCCCC | ENSP00000352608.2:n.14304-17_14304-16insCCCCCCCC | |
| ENST00000360985.7:c.14286-17_14286-16insCCCCCCCC | ENSP00000354254.4:n.14286-17_14286-16insCCCCCCCC | |
| NM_000540.2:c.14304-17_14304-16insCCCCCCCC , LRG_766t1:c.14304-17_14304-16insCCCCCCCC | NP_000531.2:n.14304-17_14304-16insCCCCCCCC | |
| NM_001042723.1:c.14289-17_14289-16insCCCCCCCC | NP_001036188.1:n.14289-17_14289-16insCCCCCCCC | |
| XM_006723317.1:c.14286-17_14286-16insCCCCCCCC | XP_006723380.1:n.14286-17_14286-16insCCCCCCCC | |
| XM_006723319.1:c.14271-17_14271-16insCCCCCCCC | XP_006723382.1:n.14271-17_14271-16insCCCCCCCC | |
| XM_011527204.1:c.14301-17_14301-16insCCCCCCCC | XP_011525506.1:n.14301-17_14301-16insCCCCCCCC | |
| XM_011527205.1:c.14217-17_14217-16insCCCCCCCC | XP_011525507.1:n.14217-17_14217-16insCCCCCCCC | |
| XM_006723317.2:c.14286-17_14286-16insCCCCCCCC | XP_006723380.1:n.14286-17_14286-16insCCCCCCCC | |
| XM_006723319.2:c.14271-17_14271-16insCCCCCCCC | XP_006723382.1:n.14271-17_14271-16insCCCCCCCC | |
| XM_011527205.2:c.14217-17_14217-16insCCCCCCCC | XP_011525507.1:n.14217-17_14217-16insCCCCCCCC | |
| NM_000540.3:c.14304-17_14304-16insCCCCCCCC MANE Select | NP_000531.2:n.14304-17_14304-16insCCCCCCCC | |
| NM_001042723.2:c.14289-17_14289-16insCCCCCCCC | NP_001036188.1:n.14289-17_14289-16insCCCCCCCC |