Canonical Allele Identifier: CA645550870

Gene: TWNK

Linked Data

• COSMIC: COSM1638420

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988818_100988819insGTCTT , CM000672.2:g.100988818_100988819insGTCTT	GRCh38
NC_000010.10:g.102748575_102748576insGTCTT , CM000672.1:g.102748575_102748576insGTCTT	GRCh37
NC_000010.9:g.102738565_102738566insGTCTT	NCBI36
NG_011646.1:g.3697_3698insAAGAC
NG_012624.1:g.6283_6284insGTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.608_609insGTCTT MANE Select	ENSP00000309595.2:p.Ser203ArgfsTer19
ENST00000370228.2:c.608_609insGTCTT	ENSP00000359248.1:p.Ser203ArgfsTer19
ENST00000643860.1:c.608_609insGTCTT	ENSP00000494389.1:p.Ser203ArgfsTer19
ENST00000646226.1:n.59-826_59-825insGTCTT
ENST00000311916.6:c.608_609insGTCTT	ENSP00000309595.2:p.Ser203ArgfsTer19
ENST00000370228.1:c.608_609insGTCTT	ENSP00000359248.1:p.Ser203ArgfsTer19
ENST00000459764.1:n.87-826_87-825insGTCTT
ENST00000473656.5:n.65-826_65-825insGTCTT
ENST00000476766.5:n.192-888_192-887insGTCTT
NM_001163812.1:c.608_609insGTCTT	NP_001157284.1:p.Ser203ArgfsTer19
NM_001163813.1:c.-119-826_-119-825insGTCTT	NP_001157285.1:n.-119-826_-119-825insGTCTT
NM_001163814.1:c.-119-826_-119-825insGTCTT	NP_001157286.1:n.-119-826_-119-825insGTCTT
NM_021830.4:c.608_609insGTCTT	NP_068602.2:p.Ser203ArgfsTer19
XM_011539975.1:c.-57-888_-57-887insGTCTT	XP_011538277.1:n.-57-888_-57-887insGTCTT
XR_945788.1:n.1441_1442insGTCTT
XM_011539975.2:c.-57-888_-57-887insGTCTT	XP_011538277.1:n.-57-888_-57-887insGTCTT
XM_017016437.1:c.-693_-692insGTCTT	XP_016871926.1:n.-693_-692insGTCTT
XR_001747142.1:n.782_783insGTCTT
XR_001747144.1:n.782_783insGTCTT
XR_002956991.1:n.782_783insGTCTT
XR_945788.2:n.782_783insGTCTT
NM_021830.5:c.608_609insGTCTT MANE Select	NP_068602.2:p.Ser203ArgfsTer19
NM_001163812.2:c.608_609insGTCTT	NP_001157284.1:p.Ser203ArgfsTer19
NM_001163813.2:c.-119-826_-119-825insGTCTT	NP_001157285.1:n.-119-826_-119-825insGTCTT
NM_001163814.2:c.-119-826_-119-825insGTCTT	NP_001157286.1:n.-119-826_-119-825insGTCTT
NM_001368275.1:c.-57-888_-57-887insGTCTT	NP_001355204.1:n.-57-888_-57-887insGTCTT
NR_160738.1:n.1276_1277insGTCTT
NR_160739.1:n.72-826_72-825insGTCTT
NR_160740.1:n.1276_1277insGTCTT
NR_160741.1:n.1276_1277insGTCTT
NR_160742.1:n.1276_1277insGTCTT