Linked Data
dbSNP Id:
rs774924765
ExAC:
5:1272397 T / TCTTGAAG
gnomAD v2:
5-1272397-T-TCTTGAAG
gnomAD v4:
5-1272282-T-TCTTGAAG
MyVariant Identifiers:
chr5:g.1272397_1272398insCTTGAAG (hg19)
chr5:g.1272282_1272283insCTTGAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1272282_1272283insCTTGAAG , CM000667.2:g.1272282_1272283insCTTGAAG | GRCh38 |
| NC_000005.9:g.1272397_1272398insCTTGAAG , CM000667.1:g.1272397_1272398insCTTGAAG | GRCh37 |
| NC_000005.8:g.1325397_1325398insCTTGAAG | NCBI36 |
| NG_009265.1:g.27765_27766insCTTCAAG , LRG_343:g.27765_27766insCTTCAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2287-3_2287-2insCTTCAAG MANE Select | ENSP00000309572.5:n.2287-3_2287-2insCTTCAAG | |
| ENST00000656021.1:c.*1833-3_*1833-2insCTTCAAG | ENSP00000499759.1:n.*1833-3_*1833-2insCTTCAAG | |
| ENST00000310581.9:c.2287-3_2287-2insCTTCAAG | ENSP00000309572.5:n.2287-3_2287-2insCTTCAAG | |
| ENST00000334602.10:c.2287-3_2287-2insCTTCAAG | ENSP00000334346.6:n.2287-3_2287-2insCTTCAAG | |
| ENST00000460137.6:c.2251-3650_2251-3649insCTTCAAG | ENSP00000425003.1:n.2251-3650_2251-3649insCTTCAAG | |
| ENST00000484238.6:n.1100-3650_1100-3649insCTTCAAG | ||
| ENST00000508104.2:c.2287-3650_2287-3649insCTTCAAG | ENSP00000426042.2:n.2287-3650_2287-3649insCTTCAAG | |
| NM_001193376.1:c.2287-3_2287-2insCTTCAAG | NP_001180305.1:n.2287-3_2287-2insCTTCAAG | |
| NM_198253.2:c.2287-3_2287-2insCTTCAAG , LRG_343t1:c.2287-3_2287-2insCTTCAAG | NP_937983.2:n.2287-3_2287-2insCTTCAAG | |
| XM_011514104.1:c.757-3_757-2insCTTCAAG | XP_011512406.1:n.757-3_757-2insCTTCAAG | |
| XM_011514105.1:c.643-3_643-2insCTTCAAG | XP_011512407.1:n.643-3_643-2insCTTCAAG | |
| XM_011514106.1:c.643-3_643-2insCTTCAAG | XP_011512408.1:n.643-3_643-2insCTTCAAG | |
| NR_149162.1:n.2345-3650_2345-3649insCTTCAAG | ||
| NR_149163.1:n.2309-3650_2309-3649insCTTCAAG | ||
| NM_001193376.2:c.2287-3_2287-2insCTTCAAG | NP_001180305.1:n.2287-3_2287-2insCTTCAAG | |
| NM_198253.3:c.2287-3_2287-2insCTTCAAG MANE Select | NP_937983.2:n.2287-3_2287-2insCTTCAAG | |
| NR_149162.2:n.2366-3650_2366-3649insCTTCAAG | ||
| NR_149163.2:n.2330-3650_2330-3649insCTTCAAG | ||
| NM_001193376.3:c.2287-3_2287-2insCTTCAAG | NP_001180305.1:n.2287-3_2287-2insCTTCAAG | |
| NR_149162.3:n.2366-3650_2366-3649insCTTCAAG | ||
| NR_149163.3:n.2330-3650_2330-3649insCTTCAAG |