Canonical Allele Identifier: CA595643977
Gene: TWNK HGNC NCBI

Linked Data

dbSNP Id: rs1482979089

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100989000_100989004del , CM000672.2:g.100989000_100989004del GRCh38
NC_000010.10:g.102748757_102748761del , CM000672.1:g.102748757_102748761del GRCh37
NC_000010.9:g.102738747_102738751del NCBI36
NG_011646.1:g.3514_3518del
NG_012624.1:g.6465_6469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.790_794del MANE Select ENSP00000309595.2:p.Ser264Ter
ENST00000370228.2:c.790_794del ENSP00000359248.1:p.Ser264Ter
ENST00000643860.1:c.790_794del ENSP00000494389.1:p.Ser264Ter
ENST00000646226.1:n.59-644_59-640del
ENST00000311916.6:c.790_794del ENSP00000309595.2:p.Ser264Ter
ENST00000370228.1:c.790_794del ENSP00000359248.1:p.Ser264Ter
ENST00000459764.1:n.87-644_87-640del
ENST00000473656.5:n.65-644_65-640del
ENST00000476766.5:n.192-706_192-702del
NM_001163812.1:c.790_794del NP_001157284.1:p.Ser264Ter
NM_001163813.1:c.-119-644_-119-640del NP_001157285.1:n.-119-644_-119-640del
NM_001163814.1:c.-119-644_-119-640del NP_001157286.1:n.-119-644_-119-640del
NM_021830.4:c.790_794del NP_068602.2:p.Ser264Ter
XM_011539975.1:c.-57-706_-57-702del XP_011538277.1:n.-57-706_-57-702del
XR_945788.1:n.1623_1627del
XM_011539975.2:c.-57-706_-57-702del XP_011538277.1:n.-57-706_-57-702del
XM_017016437.1:c.-511_-507del XP_016871926.1:n.-511_-507del
XR_001747142.1:n.964_968del
XR_001747144.1:n.964_968del
XR_002956991.1:n.964_968del
XR_945788.2:n.964_968del
NM_021830.5:c.790_794del MANE Select NP_068602.2:p.Ser264Ter
NM_001163812.2:c.790_794del NP_001157284.1:p.Ser264Ter
NM_001163813.2:c.-119-644_-119-640del NP_001157285.1:n.-119-644_-119-640del
NM_001163814.2:c.-119-644_-119-640del NP_001157286.1:n.-119-644_-119-640del
NM_001368275.1:c.-57-706_-57-702del NP_001355204.1:n.-57-706_-57-702del
NR_160738.1:n.1458_1462del
NR_160739.1:n.72-644_72-640del
NR_160740.1:n.1458_1462del
NR_160741.1:n.1458_1462del
NR_160742.1:n.1458_1462del