Canonical Allele Identifier: CA2610573119

Gene: TWNK

Linked Data

• gnomAD v4: 10-100989351-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989353_100989354del , CM000672.2:g.100989353_100989354del	GRCh38
NC_000010.10:g.102749110_102749111del , CM000672.1:g.102749110_102749111del	GRCh37
NC_000010.9:g.102739100_102739101del	NCBI36
NG_011646.1:g.3163_3164del
NG_012624.1:g.6818_6819del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1143_1144del MANE Select	ENSP00000309595.2:p.Ser382LysfsTer?
ENST00000370228.2:c.1143_1144del	ENSP00000359248.1:p.Ser382LysfsTer?
ENST00000643860.1:c.1143_1144del	ENSP00000494389.1:p.Ser382LysfsTer?
ENST00000646226.1:n.59-291_59-290del
ENST00000650396.1:c.166_167del
ENST00000311916.6:c.1143_1144del	ENSP00000309595.2:p.Ser382LysfsTer?
ENST00000370228.1:c.1143_1144del	ENSP00000359248.1:p.Ser382LysfsTer?
ENST00000459764.1:n.87-291_87-290del
ENST00000473656.5:n.65-291_65-290del
ENST00000476766.5:n.192-353_192-352del
NM_001163812.1:c.1143_1144del	NP_001157284.1:p.Ser382LysfsTer?
NM_001163813.1:c.-119-291_-119-290del	NP_001157285.1:n.-119-291_-119-290del
NM_001163814.1:c.-119-291_-119-290del	NP_001157286.1:n.-119-291_-119-290del
NM_021830.4:c.1143_1144del	NP_068602.2:p.Ser382LysfsTer?
XM_011539975.1:c.-57-353_-57-352del	XP_011538277.1:n.-57-353_-57-352del
XR_945788.1:n.1976_1977del
XM_011539975.2:c.-57-353_-57-352del	XP_011538277.1:n.-57-353_-57-352del
XM_017016437.1:c.-158_-157del	XP_016871926.1:n.-158_-157del
XR_001747142.1:n.1317_1318del
XR_001747144.1:n.1317_1318del
XR_002956991.1:n.1317_1318del
XR_945788.2:n.1317_1318del
NM_021830.5:c.1143_1144del MANE Select	NP_068602.2:p.Ser382LysfsTer?
NM_001163812.2:c.1143_1144del	NP_001157284.1:p.Ser382LysfsTer?
NM_001163813.2:c.-119-291_-119-290del	NP_001157285.1:n.-119-291_-119-290del
NM_001163814.2:c.-119-291_-119-290del	NP_001157286.1:n.-119-291_-119-290del
NM_001368275.1:c.-57-353_-57-352del	NP_001355204.1:n.-57-353_-57-352del
NR_160738.1:n.1811_1812del
NR_160739.1:n.72-291_72-290del
NR_160740.1:n.1811_1812del
NR_160741.1:n.1811_1812del
NR_160742.1:n.1811_1812del