Canonical Allele Identifier: CA2610573173

Gene: TWNK

Linked Data

• gnomAD v4: 10-100989555-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989558dup , CM000672.2:g.100989558dup	GRCh38
NC_000010.10:g.102749315dup , CM000672.1:g.102749315dup	GRCh37
NC_000010.9:g.102739305dup	NCBI36
NG_011646.1:g.2960dup
NG_012624.1:g.7023dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1244-86dup MANE Select	ENSP00000309595.2:n.1244-86dup
ENST00000370228.2:c.1244-86dup	ENSP00000359248.1:n.1244-86dup
ENST00000643860.1:c.1244-86dup	ENSP00000494389.1:n.1244-86dup
ENST00000646226.1:n.59-86dup
ENST00000650396.1:c.266+105dup
ENST00000311916.6:c.1244-86dup	ENSP00000309595.2:n.1244-86dup
ENST00000370228.1:c.1244-86dup	ENSP00000359248.1:n.1244-86dup
ENST00000459764.1:n.87-86dup
ENST00000473656.5:n.65-86dup
ENST00000476766.5:n.192-148dup
NM_001163812.1:c.1244-86dup	NP_001157284.1:n.1244-86dup
NM_001163813.1:c.-119-86dup	NP_001157285.1:n.-119-86dup
NM_001163814.1:c.-119-86dup	NP_001157286.1:n.-119-86dup
NM_021830.4:c.1244-86dup	NP_068602.2:n.1244-86dup
XM_011539974.1:c.-58+105dup	XP_011538276.1:n.-58+105dup
XM_011539975.1:c.-57-148dup	XP_011538277.1:n.-57-148dup
XR_945788.1:n.2076+105dup
XM_011539975.2:c.-57-148dup	XP_011538277.1:n.-57-148dup
XM_017016437.1:c.-58+105dup	XP_016871926.1:n.-58+105dup
XR_001747142.1:n.1418-86dup
XR_001747144.1:n.1417+105dup
XR_002956991.1:n.1417+105dup
XR_945788.2:n.1417+105dup
NM_021830.5:c.1244-86dup MANE Select	NP_068602.2:n.1244-86dup
NM_001163812.2:c.1244-86dup	NP_001157284.1:n.1244-86dup
NM_001163813.2:c.-119-86dup	NP_001157285.1:n.-119-86dup
NM_001163814.2:c.-119-86dup	NP_001157286.1:n.-119-86dup
NM_001368275.1:c.-57-148dup	NP_001355204.1:n.-57-148dup
NR_160738.1:n.1912-86dup
NR_160739.1:n.72-86dup
NR_160740.1:n.1911+105dup
NR_160741.1:n.1911+105dup
NR_160742.1:n.1911+105dup