Canonical Allele Identifier: CA2573053223

Gene: TWNK

Linked Data

• ClinVar Variation Id: 1314271
• ClinVar RCV Id: RCV001771502
• dbSNP Id: rs2133936093

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988771_100988773dup , CM000672.2:g.100988771_100988773dup	GRCh38
NC_000010.10:g.102748528_102748530dup , CM000672.1:g.102748528_102748530dup	GRCh37
NC_000010.9:g.102738518_102738520dup	NCBI36
NG_011646.1:g.3745_3747dup
NG_012624.1:g.6236_6238dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.561_563dup MANE Select	ENSP00000309595.2:p.Asp188_Thr189insAsp
ENST00000370228.2:c.561_563dup	ENSP00000359248.1:p.Asp188_Thr189insAsp
ENST00000643860.1:c.561_563dup	ENSP00000494389.1:p.Asp188_Thr189insAsp
ENST00000646226.1:n.59-873_59-871dup
ENST00000311916.6:c.561_563dup	ENSP00000309595.2:p.Asp188_Thr189insAsp
ENST00000370228.1:c.561_563dup	ENSP00000359248.1:p.Asp188_Thr189insAsp
ENST00000459764.1:n.87-873_87-871dup
ENST00000473656.5:n.65-873_65-871dup
ENST00000476766.5:n.192-935_192-933dup
NM_001163812.1:c.561_563dup	NP_001157284.1:p.Asp188_Thr189insAsp
NM_001163813.1:c.-119-873_-119-871dup	NP_001157285.1:n.-119-873_-119-871dup
NM_001163814.1:c.-119-873_-119-871dup	NP_001157286.1:n.-119-873_-119-871dup
NM_021830.4:c.561_563dup	NP_068602.2:p.Asp188_Thr189insAsp
XM_011539975.1:c.-57-935_-57-933dup	XP_011538277.1:n.-57-935_-57-933dup
XR_945788.1:n.1394_1396dup
XM_011539975.2:c.-57-935_-57-933dup	XP_011538277.1:n.-57-935_-57-933dup
XM_017016437.1:c.-740_-738dup	XP_016871926.1:n.-740_-738dup
XR_001747142.1:n.735_737dup
XR_001747144.1:n.735_737dup
XR_002956991.1:n.735_737dup
XR_945788.2:n.735_737dup
NM_021830.5:c.561_563dup MANE Select	NP_068602.2:p.Asp188_Thr189insAsp
NM_001163812.2:c.561_563dup	NP_001157284.1:p.Asp188_Thr189insAsp
NM_001163813.2:c.-119-873_-119-871dup	NP_001157285.1:n.-119-873_-119-871dup
NM_001163814.2:c.-119-873_-119-871dup	NP_001157286.1:n.-119-873_-119-871dup
NM_001368275.1:c.-57-935_-57-933dup	NP_001355204.1:n.-57-935_-57-933dup
NR_160738.1:n.1229_1231dup
NR_160739.1:n.72-873_72-871dup
NR_160740.1:n.1229_1231dup
NR_160741.1:n.1229_1231dup
NR_160742.1:n.1229_1231dup