Canonical Allele Identifier: CA1932018504
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100988567_100988568delinsAG , CM000672.2:g.100988567_100988568delinsAG GRCh38
NC_000010.10:g.102748324_102748325delinsAG , CM000672.1:g.102748324_102748325delinsAG GRCh37
NC_000010.9:g.102738314_102738315delinsAG NCBI36
NG_011646.1:g.3948_3949delinsCT
NG_012624.1:g.6032_6033delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.357_358delinsAG MANE Select ENSP00000309595.2:p.Glu119=
ENST00000370228.2:c.357_358delinsAG ENSP00000359248.1:p.Glu119=
ENST00000643860.1:c.357_358delinsAG ENSP00000494389.1:p.Glu119=
ENST00000646226.1:n.58+954_58+955delinsAG
ENST00000311916.6:c.357_358delinsAG ENSP00000309595.2:p.Glu119=
ENST00000370228.1:c.357_358delinsAG ENSP00000359248.1:p.Glu119=
ENST00000459764.1:n.86+687_86+688delinsAG
ENST00000473656.5:n.64+954_64+955delinsAG
ENST00000476766.5:n.191+1010_191+1011delinsAG
NM_001163812.1:c.357_358delinsAG NP_001157284.1:p.Glu119=
NM_001163813.1:c.-120+954_-120+955delinsAG NP_001157285.1:n.-120+954_-120+955delinsAG
NM_001163814.1:c.-120+954_-120+955delinsAG NP_001157286.1:n.-120+954_-120+955delinsAG
NM_021830.4:c.357_358delinsAG NP_068602.2:p.Glu119=
XM_011539975.1:c.-58+954_-58+955delinsAG XP_011538277.1:n.-58+954_-58+955delinsAG
XR_945788.1:n.1190_1191delinsAG
XM_011539975.2:c.-58+954_-58+955delinsAG XP_011538277.1:n.-58+954_-58+955delinsAG
XM_017016437.1:c.-944_-943delinsAG XP_016871926.1:n.-944_-943delinsAG
XR_001747142.1:n.531_532delinsAG
XR_001747144.1:n.531_532delinsAG
XR_002956991.1:n.531_532delinsAG
XR_945788.2:n.531_532delinsAG
NM_021830.5:c.357_358delinsAG MANE Select NP_068602.2:p.Glu119=
NM_001163812.2:c.357_358delinsAG NP_001157284.1:p.Glu119=
NM_001163813.2:c.-120+954_-120+955delinsAG NP_001157285.1:n.-120+954_-120+955delinsAG
NM_001163814.2:c.-120+954_-120+955delinsAG NP_001157286.1:n.-120+954_-120+955delinsAG
NM_001368275.1:c.-58+954_-58+955delinsAG NP_001355204.1:n.-58+954_-58+955delinsAG
NR_160738.1:n.1025_1026delinsAG
NR_160739.1:n.71+954_71+955delinsAG
NR_160740.1:n.1025_1026delinsAG
NR_160741.1:n.1025_1026delinsAG
NR_160742.1:n.1025_1026delinsAG