Canonical Allele Identifier: CA1932023371

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990686_100990688delinsTCA , CM000672.2:g.100990686_100990688delinsTCA	GRCh38
NC_000010.10:g.102750443_102750445delinsTCA , CM000672.1:g.102750443_102750445delinsTCA	GRCh37
NC_000010.9:g.102740433_102740435delinsTCA	NCBI36
NG_011646.1:g.1828_1830delinsTGA
NG_012624.1:g.8151_8153delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+143_1592+145delinsTCA MANE Select	ENSP00000309595.2:n.1592+143_1592+145delinsTCA
ENST00000370228.2:c.1592+143_1592+145delinsTCA	ENSP00000359248.1:n.1592+143_1592+145delinsTCA
ENST00000643860.1:c.*116+23_*116+25delinsTCA	ENSP00000494389.1:n.*116+23_*116+25delinsTCA
ENST00000646226.1:n.407+143_407+145delinsTCA
ENST00000647109.1:c.251+143_251+145delinsTCA
ENST00000650396.1:c.673+23_673+25delinsTCA
ENST00000311916.6:c.1592+143_1592+145delinsTCA	ENSP00000309595.2:n.1592+143_1592+145delinsTCA
ENST00000370228.1:c.1592+143_1592+145delinsTCA	ENSP00000359248.1:n.1592+143_1592+145delinsTCA
ENST00000473656.5:n.413+143_413+145delinsTCA
ENST00000476766.5:n.478+143_478+145delinsTCA
NM_001163812.1:c.1592+143_1592+145delinsTCA	NP_001157284.1:n.1592+143_1592+145delinsTCA
NM_001163813.1:c.230+143_230+145delinsTCA	NP_001157285.1:n.230+143_230+145delinsTCA
NM_001163814.1:c.230+143_230+145delinsTCA	NP_001157286.1:n.230+143_230+145delinsTCA
NM_021830.4:c.1592+143_1592+145delinsTCA	NP_068602.2:n.1592+143_1592+145delinsTCA
XM_011539974.1:c.230+143_230+145delinsTCA	XP_011538276.1:n.230+143_230+145delinsTCA
XM_011539975.1:c.230+143_230+145delinsTCA	XP_011538277.1:n.230+143_230+145delinsTCA
XR_945788.1:n.2363+143_2363+145delinsTCA
XM_011539975.2:c.230+143_230+145delinsTCA	XP_011538277.1:n.230+143_230+145delinsTCA
XM_017016437.1:c.230+143_230+145delinsTCA	XP_016871926.1:n.230+143_230+145delinsTCA
XR_001747142.1:n.1886+23_1886+25delinsTCA
XR_001747144.1:n.1824+23_1824+25delinsTCA
XR_002956991.1:n.1704+143_1704+145delinsTCA
XR_945788.2:n.1704+143_1704+145delinsTCA
NM_021830.5:c.1592+143_1592+145delinsTCA MANE Select	NP_068602.2:n.1592+143_1592+145delinsTCA
NM_001163812.2:c.1592+143_1592+145delinsTCA	NP_001157284.1:n.1592+143_1592+145delinsTCA
NM_001163813.2:c.230+143_230+145delinsTCA	NP_001157285.1:n.230+143_230+145delinsTCA
NM_001163814.2:c.230+143_230+145delinsTCA	NP_001157286.1:n.230+143_230+145delinsTCA
NM_001368275.1:c.230+143_230+145delinsTCA	NP_001355204.1:n.230+143_230+145delinsTCA
NR_160738.1:n.2380+23_2380+25delinsTCA
NR_160739.1:n.540+23_540+25delinsTCA
NR_160740.1:n.2198+143_2198+145delinsTCA
NR_160741.1:n.2198+143_2198+145delinsTCA
NR_160742.1:n.2318+23_2318+25delinsTCA