Canonical Allele Identifier: CA2580081109

Gene: TWNK

Linked Data

• ClinVar Variation Id: 2100712
• ClinVar RCV Id: RCV003014539

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988835_100988836insCCTCCCCTGGGT , CM000672.2:g.100988835_100988836insCCTCCCCTGGGT	GRCh38
NC_000010.10:g.102748592_102748593insCCTCCCCTGGGT , CM000672.1:g.102748592_102748593insCCTCCCCTGGGT	GRCh37
NC_000010.9:g.102738582_102738583insCCTCCCCTGGGT	NCBI36
NG_011646.1:g.3683_3684insCAGGGGAGGACC
NG_012624.1:g.6300_6301insCCTCCCCTGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.625_626insCCTCCCCTGGGT MANE Select	ENSP00000309595.2:p.Trp208_Phe209insSerSerProGly
ENST00000370228.2:c.625_626insCCTCCCCTGGGT	ENSP00000359248.1:p.Trp208_Phe209insSerSerProGly
ENST00000643860.1:c.625_626insCCTCCCCTGGGT	ENSP00000494389.1:p.Trp208_Phe209insSerSerProGly
ENST00000646226.1:n.59-809_59-808insCCTCCCCTGGGT
ENST00000311916.6:c.625_626insCCTCCCCTGGGT	ENSP00000309595.2:p.Trp208_Phe209insSerSerProGly
ENST00000370228.1:c.625_626insCCTCCCCTGGGT	ENSP00000359248.1:p.Trp208_Phe209insSerSerProGly
ENST00000459764.1:n.87-809_87-808insCCTCCCCTGGGT
ENST00000473656.5:n.65-809_65-808insCCTCCCCTGGGT
ENST00000476766.5:n.192-871_192-870insCCTCCCCTGGGT
NM_001163812.1:c.625_626insCCTCCCCTGGGT	NP_001157284.1:p.Trp208_Phe209insSerSerProGly
NM_001163813.1:c.-119-809_-119-808insCCTCCCCTGGGT	NP_001157285.1:n.-119-809_-119-808insCCTCCCCTGGGT
NM_001163814.1:c.-119-809_-119-808insCCTCCCCTGGGT	NP_001157286.1:n.-119-809_-119-808insCCTCCCCTGGGT
NM_021830.4:c.625_626insCCTCCCCTGGGT	NP_068602.2:p.Trp208_Phe209insSerSerProGly
XM_011539975.1:c.-57-871_-57-870insCCTCCCCTGGGT	XP_011538277.1:n.-57-871_-57-870insCCTCCCCTGGGT
XR_945788.1:n.1458_1459insCCTCCCCTGGGT
XM_011539975.2:c.-57-871_-57-870insCCTCCCCTGGGT	XP_011538277.1:n.-57-871_-57-870insCCTCCCCTGGGT
XM_017016437.1:c.-676_-675insCCTCCCCTGGGT	XP_016871926.1:n.-676_-675insCCTCCCCTGGGT
XR_001747142.1:n.799_800insCCTCCCCTGGGT
XR_001747144.1:n.799_800insCCTCCCCTGGGT
XR_002956991.1:n.799_800insCCTCCCCTGGGT
XR_945788.2:n.799_800insCCTCCCCTGGGT
NM_021830.5:c.625_626insCCTCCCCTGGGT MANE Select	NP_068602.2:p.Trp208_Phe209insSerSerProGly
NM_001163812.2:c.625_626insCCTCCCCTGGGT	NP_001157284.1:p.Trp208_Phe209insSerSerProGly
NM_001163813.2:c.-119-809_-119-808insCCTCCCCTGGGT	NP_001157285.1:n.-119-809_-119-808insCCTCCCCTGGGT
NM_001163814.2:c.-119-809_-119-808insCCTCCCCTGGGT	NP_001157286.1:n.-119-809_-119-808insCCTCCCCTGGGT
NM_001368275.1:c.-57-871_-57-870insCCTCCCCTGGGT	NP_001355204.1:n.-57-871_-57-870insCCTCCCCTGGGT
NR_160738.1:n.1293_1294insCCTCCCCTGGGT
NR_160739.1:n.72-809_72-808insCCTCCCCTGGGT
NR_160740.1:n.1293_1294insCCTCCCCTGGGT
NR_160741.1:n.1293_1294insCCTCCCCTGGGT
NR_160742.1:n.1293_1294insCCTCCCCTGGGT