Linked Data
dbSNP Id:
rs1464143464
gnomAD v2:
1-196965068-T-TTTTG
MyVariant Identifiers:
chr1:g.196965068_196965069insTTTG (hg19)
chr1:g.196995938_196995939insTTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995938_196995939insTTTG , CM000663.2:g.196995938_196995939insTTTG | GRCh38 |
| NC_000001.10:g.196965068_196965069insTTTG , CM000663.1:g.196965068_196965069insTTTG | GRCh37 |
| NC_000001.9:g.195231691_195231692insTTTG | NCBI36 |
| NG_016365.1:g.23402_23403insTTTG , LRG_227:g.23402_23403insTTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.535+39_535+40insTTTG | ENSP00000514393.1:n.535+39_535+40insTTTG | |
| ENST00000699467.1:n.859+39_859+40insTTTG | ||
| ENST00000699468.1:c.-24-176_-24-175insTTTG | ENSP00000514394.1:n.-24-176_-24-175insTTTG | |
| ENST00000256785.5:c.790+39_790+40insTTTG MANE Select | ENSP00000256785.4:n.790+39_790+40insTTTG | |
| ENST00000256785.4:c.790+39_790+40insTTTG | ENSP00000256785.4:n.790+39_790+40insTTTG | |
| NM_030787.3:c.790+39_790+40insTTTG , LRG_227t1:c.790+39_790+40insTTTG | NP_110414.1:n.790+39_790+40insTTTG | |
| XM_011510020.1:c.799+39_799+40insTTTG | XP_011508322.1:n.799+39_799+40insTTTG | |
| XM_011510020.2:c.799+39_799+40insTTTG | XP_011508322.1:n.799+39_799+40insTTTG | |
| NM_030787.4:c.790+39_790+40insTTTG MANE Select | NP_110414.1:n.790+39_790+40insTTTG |