Linked Data
dbSNP Id:
rs1373960512
gnomAD v2:
15-29424765-T-TGTTCTCACCGCA
gnomAD v3:
15-29132562-T-TGTTCTCACCGCA
gnomAD v4:
15-29132562-T-TGTTCTCACCGCA
MyVariant Identifiers:
chr15:g.29424765_29424766insGTTCTCACCGCA (hg19)
chr15:g.29132562_29132563insGTTCTCACCGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.29132568_29132579dup , CM000677.2:g.29132568_29132579dup | GRCh38 |
| NC_000015.9:g.29424771_29424782dup , CM000677.1:g.29424771_29424782dup | GRCh37 |
| NC_000015.8:g.27212063_27212074dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261275.5:c.928-3710_928-3699dup MANE Select | ENSP00000261275.4:n.928-3710_928-3699dup | |
| ENST00000261275.4:c.928-3710_928-3699dup | ENSP00000261275.4:n.928-3710_928-3699dup | |
| ENST00000560021.1:n.664-3710_664-3699dup | ||
| NM_015307.1:c.928-3710_928-3699dup | NP_056122.1:n.928-3710_928-3699dup | |
| XM_011521407.1:c.1039-3710_1039-3699dup | XP_011519709.1:n.1039-3710_1039-3699dup | |
| XM_011521407.2:c.1039-3710_1039-3699dup | XP_011519709.1:n.1039-3710_1039-3699dup | |
| NM_001387214.1:c.793-3710_793-3699dup | NP_001374143.1:n.793-3710_793-3699dup | |
| NM_001387215.1:c.640-3710_640-3699dup | NP_001374144.1:n.640-3710_640-3699dup | |
| NM_001387216.1:c.640-3710_640-3699dup | NP_001374145.1:n.640-3710_640-3699dup | |
| NM_001387217.1:c.505-3710_505-3699dup | NP_001374146.1:n.505-3710_505-3699dup | |
| NM_015307.2:c.928-3710_928-3699dup MANE Select | NP_056122.1:n.928-3710_928-3699dup |