Canonical Allele Identifier: CA1932021217

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989558_100989559delinsTC , CM000672.2:g.100989558_100989559delinsTC	GRCh38
NC_000010.10:g.102749315_102749316delinsTC , CM000672.1:g.102749315_102749316delinsTC	GRCh37
NC_000010.9:g.102739305_102739306delinsTC	NCBI36
NG_011646.1:g.2957_2958delinsGA
NG_012624.1:g.7023_7024delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1244-86_1244-85delinsTC MANE Select	ENSP00000309595.2:n.1244-86_1244-85delinsTC
ENST00000370228.2:c.1244-86_1244-85delinsTC	ENSP00000359248.1:n.1244-86_1244-85delinsTC
ENST00000643860.1:c.1244-86_1244-85delinsTC	ENSP00000494389.1:n.1244-86_1244-85delinsTC
ENST00000646226.1:n.59-86_59-85delinsTC
ENST00000650396.1:c.266+105_266+106delinsTC
ENST00000311916.6:c.1244-86_1244-85delinsTC	ENSP00000309595.2:n.1244-86_1244-85delinsTC
ENST00000370228.1:c.1244-86_1244-85delinsTC	ENSP00000359248.1:n.1244-86_1244-85delinsTC
ENST00000459764.1:n.87-86_87-85delinsTC
ENST00000473656.5:n.65-86_65-85delinsTC
ENST00000476766.5:n.192-148_192-147delinsTC
NM_001163812.1:c.1244-86_1244-85delinsTC	NP_001157284.1:n.1244-86_1244-85delinsTC
NM_001163813.1:c.-119-86_-119-85delinsTC	NP_001157285.1:n.-119-86_-119-85delinsTC
NM_001163814.1:c.-119-86_-119-85delinsTC	NP_001157286.1:n.-119-86_-119-85delinsTC
NM_021830.4:c.1244-86_1244-85delinsTC	NP_068602.2:n.1244-86_1244-85delinsTC
XM_011539974.1:c.-58+105_-58+106delinsTC	XP_011538276.1:n.-58+105_-58+106delinsTC
XM_011539975.1:c.-57-148_-57-147delinsTC	XP_011538277.1:n.-57-148_-57-147delinsTC
XR_945788.1:n.2076+105_2076+106delinsTC
XM_011539975.2:c.-57-148_-57-147delinsTC	XP_011538277.1:n.-57-148_-57-147delinsTC
XM_017016437.1:c.-58+105_-58+106delinsTC	XP_016871926.1:n.-58+105_-58+106delinsTC
XR_001747142.1:n.1418-86_1418-85delinsTC
XR_001747144.1:n.1417+105_1417+106delinsTC
XR_002956991.1:n.1417+105_1417+106delinsTC
XR_945788.2:n.1417+105_1417+106delinsTC
NM_021830.5:c.1244-86_1244-85delinsTC MANE Select	NP_068602.2:n.1244-86_1244-85delinsTC
NM_001163812.2:c.1244-86_1244-85delinsTC	NP_001157284.1:n.1244-86_1244-85delinsTC
NM_001163813.2:c.-119-86_-119-85delinsTC	NP_001157285.1:n.-119-86_-119-85delinsTC
NM_001163814.2:c.-119-86_-119-85delinsTC	NP_001157286.1:n.-119-86_-119-85delinsTC
NM_001368275.1:c.-57-148_-57-147delinsTC	NP_001355204.1:n.-57-148_-57-147delinsTC
NR_160738.1:n.1912-86_1912-85delinsTC
NR_160739.1:n.72-86_72-85delinsTC
NR_160740.1:n.1911+105_1911+106delinsTC
NR_160741.1:n.1911+105_1911+106delinsTC
NR_160742.1:n.1911+105_1911+106delinsTC