Canonical Allele Identifier: CA2789232488

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990593_100990594insAACCCAAACACACCCAA , CM000672.2:g.100990593_100990594insAACCCAAACACACCCAA	GRCh38
NC_000010.10:g.102750350_102750351insAACCCAAACACACCCAA , CM000672.1:g.102750350_102750351insAACCCAAACACACCCAA	GRCh37
NC_000010.9:g.102740340_102740341insAACCCAAACACACCCAA	NCBI36
NG_011646.1:g.1925_1926insGGTGTGTTTGGGTTTTG
NG_012624.1:g.8058_8059insAACCCAAACACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+50_1592+51insAACCCAAACACACCCAA MANE Select	ENSP00000309595.2:n.1592+50_1592+51insAACCCAAACACACCCAA
ENST00000370228.2:c.1592+50_1592+51insAACCCAAACACACCCAA	ENSP00000359248.1:n.1592+50_1592+51insAACCCAAACACACCCAA
ENST00000643860.1:c.*46_*47insAACCCAAACACACCCAA	ENSP00000494389.1:n.*46_*47insAACCCAAACACACCCAA
ENST00000646226.1:n.407+50_407+51insAACCCAAACACACCCAA
ENST00000647109.1:c.251+50_251+51insAACCCAAACACACCCAA
ENST00000650396.1:c.603_604insAACCCAAACACACCCAA
ENST00000311916.6:c.1592+50_1592+51insAACCCAAACACACCCAA	ENSP00000309595.2:n.1592+50_1592+51insAACCCAAACACACCCAA
ENST00000370228.1:c.1592+50_1592+51insAACCCAAACACACCCAA	ENSP00000359248.1:n.1592+50_1592+51insAACCCAAACACACCCAA
ENST00000473656.5:n.413+50_413+51insAACCCAAACACACCCAA
ENST00000476766.5:n.478+50_478+51insAACCCAAACACACCCAA
NM_001163812.1:c.1592+50_1592+51insAACCCAAACACACCCAA	NP_001157284.1:n.1592+50_1592+51insAACCCAAACACACCCAA
NM_001163813.1:c.230+50_230+51insAACCCAAACACACCCAA	NP_001157285.1:n.230+50_230+51insAACCCAAACACACCCAA
NM_001163814.1:c.230+50_230+51insAACCCAAACACACCCAA	NP_001157286.1:n.230+50_230+51insAACCCAAACACACCCAA
NM_021830.4:c.1592+50_1592+51insAACCCAAACACACCCAA	NP_068602.2:n.1592+50_1592+51insAACCCAAACACACCCAA
XM_011539974.1:c.230+50_230+51insAACCCAAACACACCCAA	XP_011538276.1:n.230+50_230+51insAACCCAAACACACCCAA
XM_011539975.1:c.230+50_230+51insAACCCAAACACACCCAA	XP_011538277.1:n.230+50_230+51insAACCCAAACACACCCAA
XR_945788.1:n.2363+50_2363+51insAACCCAAACACACCCAA
XM_011539975.2:c.230+50_230+51insAACCCAAACACACCCAA	XP_011538277.1:n.230+50_230+51insAACCCAAACACACCCAA
XM_017016437.1:c.230+50_230+51insAACCCAAACACACCCAA	XP_016871926.1:n.230+50_230+51insAACCCAAACACACCCAA
XR_001747142.1:n.1816_1817insAACCCAAACACACCCAA
XR_001747144.1:n.1754_1755insAACCCAAACACACCCAA
XR_002956991.1:n.1704+50_1704+51insAACCCAAACACACCCAA
XR_945788.2:n.1704+50_1704+51insAACCCAAACACACCCAA
NM_021830.5:c.1592+50_1592+51insAACCCAAACACACCCAA MANE Select	NP_068602.2:n.1592+50_1592+51insAACCCAAACACACCCAA
NM_001163812.2:c.1592+50_1592+51insAACCCAAACACACCCAA	NP_001157284.1:n.1592+50_1592+51insAACCCAAACACACCCAA
NM_001163813.2:c.230+50_230+51insAACCCAAACACACCCAA	NP_001157285.1:n.230+50_230+51insAACCCAAACACACCCAA
NM_001163814.2:c.230+50_230+51insAACCCAAACACACCCAA	NP_001157286.1:n.230+50_230+51insAACCCAAACACACCCAA
NM_001368275.1:c.230+50_230+51insAACCCAAACACACCCAA	NP_001355204.1:n.230+50_230+51insAACCCAAACACACCCAA
NR_160738.1:n.2310_2311insAACCCAAACACACCCAA
NR_160739.1:n.470_471insAACCCAAACACACCCAA
NR_160740.1:n.2198+50_2198+51insAACCCAAACACACCCAA
NR_160741.1:n.2198+50_2198+51insAACCCAAACACACCCAA
NR_160742.1:n.2248_2249insAACCCAAACACACCCAA