Canonical Allele Identifier: CA931811070

Gene: TWNK

Linked Data

• dbSNP Id: rs879612003
• gnomAD v3: 10-100989558-T-TC
• gnomAD v4: 10-100989558-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989564dup , CM000672.2:g.100989564dup	GRCh38
NC_000010.10:g.102749321dup , CM000672.1:g.102749321dup	GRCh37
NC_000010.9:g.102739311dup	NCBI36
NG_011646.1:g.2957dup
NG_012624.1:g.7029dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1244-80dup MANE Select	ENSP00000309595.2:n.1244-80dup
ENST00000370228.2:c.1244-80dup	ENSP00000359248.1:n.1244-80dup
ENST00000643860.1:c.1244-80dup	ENSP00000494389.1:n.1244-80dup
ENST00000646226.1:n.59-80dup
ENST00000650396.1:c.266+111dup
ENST00000311916.6:c.1244-80dup	ENSP00000309595.2:n.1244-80dup
ENST00000370228.1:c.1244-80dup	ENSP00000359248.1:n.1244-80dup
ENST00000459764.1:n.87-80dup
ENST00000473656.5:n.65-80dup
ENST00000476766.5:n.192-142dup
NM_001163812.1:c.1244-80dup	NP_001157284.1:n.1244-80dup
NM_001163813.1:c.-119-80dup	NP_001157285.1:n.-119-80dup
NM_001163814.1:c.-119-80dup	NP_001157286.1:n.-119-80dup
NM_021830.4:c.1244-80dup	NP_068602.2:n.1244-80dup
XM_011539974.1:c.-58+111dup	XP_011538276.1:n.-58+111dup
XM_011539975.1:c.-57-142dup	XP_011538277.1:n.-57-142dup
XR_945788.1:n.2076+111dup
XM_011539975.2:c.-57-142dup	XP_011538277.1:n.-57-142dup
XM_017016437.1:c.-58+111dup	XP_016871926.1:n.-58+111dup
XR_001747142.1:n.1418-80dup
XR_001747144.1:n.1417+111dup
XR_002956991.1:n.1417+111dup
XR_945788.2:n.1417+111dup
NM_021830.5:c.1244-80dup MANE Select	NP_068602.2:n.1244-80dup
NM_001163812.2:c.1244-80dup	NP_001157284.1:n.1244-80dup
NM_001163813.2:c.-119-80dup	NP_001157285.1:n.-119-80dup
NM_001163814.2:c.-119-80dup	NP_001157286.1:n.-119-80dup
NM_001368275.1:c.-57-142dup	NP_001355204.1:n.-57-142dup
NR_160738.1:n.1912-80dup
NR_160739.1:n.72-80dup
NR_160740.1:n.1911+111dup
NR_160741.1:n.1911+111dup
NR_160742.1:n.1911+111dup