Canonical Allele Identifier: CA2789232486

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990579_100990580insTCTAAA , CM000672.2:g.100990579_100990580insTCTAAA	GRCh38
NC_000010.10:g.102750336_102750337insTCTAAA , CM000672.1:g.102750336_102750337insTCTAAA	GRCh37
NC_000010.9:g.102740326_102740327insTCTAAA	NCBI36
NG_011646.1:g.1936_1937insTTTAGA
NG_012624.1:g.8044_8045insTCTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+36_1592+37insTCTAAA MANE Select	ENSP00000309595.2:n.1592+36_1592+37insTCTAAA
ENST00000370228.2:c.1592+36_1592+37insTCTAAA	ENSP00000359248.1:n.1592+36_1592+37insTCTAAA
ENST00000643860.1:c.*32_*33insTCTAAA	ENSP00000494389.1:n.*32_*33insTCTAAA
ENST00000646226.1:n.407+36_407+37insTCTAAA
ENST00000647109.1:c.251+36_251+37insTCTAAA
ENST00000650396.1:c.589_590insTCTAAA
ENST00000311916.6:c.1592+36_1592+37insTCTAAA	ENSP00000309595.2:n.1592+36_1592+37insTCTAAA
ENST00000370228.1:c.1592+36_1592+37insTCTAAA	ENSP00000359248.1:n.1592+36_1592+37insTCTAAA
ENST00000473656.5:n.413+36_413+37insTCTAAA
ENST00000476766.5:n.478+36_478+37insTCTAAA
NM_001163812.1:c.1592+36_1592+37insTCTAAA	NP_001157284.1:n.1592+36_1592+37insTCTAAA
NM_001163813.1:c.230+36_230+37insTCTAAA	NP_001157285.1:n.230+36_230+37insTCTAAA
NM_001163814.1:c.230+36_230+37insTCTAAA	NP_001157286.1:n.230+36_230+37insTCTAAA
NM_021830.4:c.1592+36_1592+37insTCTAAA	NP_068602.2:n.1592+36_1592+37insTCTAAA
XM_011539974.1:c.230+36_230+37insTCTAAA	XP_011538276.1:n.230+36_230+37insTCTAAA
XM_011539975.1:c.230+36_230+37insTCTAAA	XP_011538277.1:n.230+36_230+37insTCTAAA
XR_945788.1:n.2363+36_2363+37insTCTAAA
XM_011539975.2:c.230+36_230+37insTCTAAA	XP_011538277.1:n.230+36_230+37insTCTAAA
XM_017016437.1:c.230+36_230+37insTCTAAA	XP_016871926.1:n.230+36_230+37insTCTAAA
XR_001747142.1:n.1802_1803insTCTAAA
XR_001747144.1:n.1740_1741insTCTAAA
XR_002956991.1:n.1704+36_1704+37insTCTAAA
XR_945788.2:n.1704+36_1704+37insTCTAAA
NM_021830.5:c.1592+36_1592+37insTCTAAA MANE Select	NP_068602.2:n.1592+36_1592+37insTCTAAA
NM_001163812.2:c.1592+36_1592+37insTCTAAA	NP_001157284.1:n.1592+36_1592+37insTCTAAA
NM_001163813.2:c.230+36_230+37insTCTAAA	NP_001157285.1:n.230+36_230+37insTCTAAA
NM_001163814.2:c.230+36_230+37insTCTAAA	NP_001157286.1:n.230+36_230+37insTCTAAA
NM_001368275.1:c.230+36_230+37insTCTAAA	NP_001355204.1:n.230+36_230+37insTCTAAA
NR_160738.1:n.2296_2297insTCTAAA
NR_160739.1:n.456_457insTCTAAA
NR_160740.1:n.2198+36_2198+37insTCTAAA
NR_160741.1:n.2198+36_2198+37insTCTAAA
NR_160742.1:n.2234_2235insTCTAAA