Canonical Allele Identifier: CA2832564954

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988848dup , CM000672.2:g.100988848dup	GRCh38
NC_000010.10:g.102748605dup , CM000672.1:g.102748605dup	GRCh37
NC_000010.9:g.102738595dup	NCBI36
NG_011646.1:g.3672dup
NG_012624.1:g.6313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.638dup MANE Select	ENSP00000309595.2:p.Ser214LeufsTer12
ENST00000370228.2:c.638dup	ENSP00000359248.1:p.Ser214LeufsTer12
ENST00000643860.1:c.638dup	ENSP00000494389.1:p.Ser214LeufsTer12
ENST00000646226.1:n.59-796dup
ENST00000311916.6:c.638dup	ENSP00000309595.2:p.Ser214LeufsTer12
ENST00000370228.1:c.638dup	ENSP00000359248.1:p.Ser214LeufsTer12
ENST00000459764.1:n.87-796dup
ENST00000473656.5:n.65-796dup
ENST00000476766.5:n.192-858dup
NM_001163812.1:c.638dup	NP_001157284.1:p.Ser214LeufsTer12
NM_001163813.1:c.-119-796dup	NP_001157285.1:n.-119-796dup
NM_001163814.1:c.-119-796dup	NP_001157286.1:n.-119-796dup
NM_021830.4:c.638dup	NP_068602.2:p.Ser214LeufsTer12
XM_011539975.1:c.-57-858dup	XP_011538277.1:n.-57-858dup
XR_945788.1:n.1471dup
XM_011539975.2:c.-57-858dup	XP_011538277.1:n.-57-858dup
XM_017016437.1:c.-663dup	XP_016871926.1:n.-663dup
XR_001747142.1:n.812dup
XR_001747144.1:n.812dup
XR_002956991.1:n.812dup
XR_945788.2:n.812dup
NM_021830.5:c.638dup MANE Select	NP_068602.2:p.Ser214LeufsTer12
NM_001163812.2:c.638dup	NP_001157284.1:p.Ser214LeufsTer12
NM_001163813.2:c.-119-796dup	NP_001157285.1:n.-119-796dup
NM_001163814.2:c.-119-796dup	NP_001157286.1:n.-119-796dup
NM_001368275.1:c.-57-858dup	NP_001355204.1:n.-57-858dup
NR_160738.1:n.1306dup
NR_160739.1:n.72-796dup
NR_160740.1:n.1306dup
NR_160741.1:n.1306dup
NR_160742.1:n.1306dup