Canonical Allele Identifier: CA1932023333

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990673_100990674delinsAC , CM000672.2:g.100990673_100990674delinsAC	GRCh38
NC_000010.10:g.102750430_102750431delinsAC , CM000672.1:g.102750430_102750431delinsAC	GRCh37
NC_000010.9:g.102740420_102740421delinsAC	NCBI36
NG_011646.1:g.1842_1843delinsGT
NG_012624.1:g.8138_8139delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+130_1592+131delinsAC MANE Select	ENSP00000309595.2:n.1592+130_1592+131delinsAC
ENST00000370228.2:c.1592+130_1592+131delinsAC	ENSP00000359248.1:n.1592+130_1592+131delinsAC
ENST00000643860.1:c.*116+10_*116+11delinsAC	ENSP00000494389.1:n.*116+10_*116+11delinsAC
ENST00000646226.1:n.407+130_407+131delinsAC
ENST00000647109.1:c.251+130_251+131delinsAC
ENST00000650396.1:c.673+10_673+11delinsAC
ENST00000311916.6:c.1592+130_1592+131delinsAC	ENSP00000309595.2:n.1592+130_1592+131delinsAC
ENST00000370228.1:c.1592+130_1592+131delinsAC	ENSP00000359248.1:n.1592+130_1592+131delinsAC
ENST00000473656.5:n.413+130_413+131delinsAC
ENST00000476766.5:n.478+130_478+131delinsAC
NM_001163812.1:c.1592+130_1592+131delinsAC	NP_001157284.1:n.1592+130_1592+131delinsAC
NM_001163813.1:c.230+130_230+131delinsAC	NP_001157285.1:n.230+130_230+131delinsAC
NM_001163814.1:c.230+130_230+131delinsAC	NP_001157286.1:n.230+130_230+131delinsAC
NM_021830.4:c.1592+130_1592+131delinsAC	NP_068602.2:n.1592+130_1592+131delinsAC
XM_011539974.1:c.230+130_230+131delinsAC	XP_011538276.1:n.230+130_230+131delinsAC
XM_011539975.1:c.230+130_230+131delinsAC	XP_011538277.1:n.230+130_230+131delinsAC
XR_945788.1:n.2363+130_2363+131delinsAC
XM_011539975.2:c.230+130_230+131delinsAC	XP_011538277.1:n.230+130_230+131delinsAC
XM_017016437.1:c.230+130_230+131delinsAC	XP_016871926.1:n.230+130_230+131delinsAC
XR_001747142.1:n.1886+10_1886+11delinsAC
XR_001747144.1:n.1824+10_1824+11delinsAC
XR_002956991.1:n.1704+130_1704+131delinsAC
XR_945788.2:n.1704+130_1704+131delinsAC
NM_021830.5:c.1592+130_1592+131delinsAC MANE Select	NP_068602.2:n.1592+130_1592+131delinsAC
NM_001163812.2:c.1592+130_1592+131delinsAC	NP_001157284.1:n.1592+130_1592+131delinsAC
NM_001163813.2:c.230+130_230+131delinsAC	NP_001157285.1:n.230+130_230+131delinsAC
NM_001163814.2:c.230+130_230+131delinsAC	NP_001157286.1:n.230+130_230+131delinsAC
NM_001368275.1:c.230+130_230+131delinsAC	NP_001355204.1:n.230+130_230+131delinsAC
NR_160738.1:n.2380+10_2380+11delinsAC
NR_160739.1:n.540+10_540+11delinsAC
NR_160740.1:n.2198+130_2198+131delinsAC
NR_160741.1:n.2198+130_2198+131delinsAC
NR_160742.1:n.2318+10_2318+11delinsAC