Canonical Allele Identifier: CA2574645139

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990739_100990740del , CM000672.2:g.100990739_100990740del	GRCh38
NC_000010.10:g.102750496_102750497del , CM000672.1:g.102750496_102750497del	GRCh37
NC_000010.9:g.102740486_102740487del	NCBI36
NG_011646.1:g.1779_1780del
NG_012624.1:g.8204_8205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1593-130_1593-129del MANE Select	ENSP00000309595.2:n.1593-130_1593-129del
ENST00000370228.2:c.1593-130_1593-129del	ENSP00000359248.1:n.1593-130_1593-129del
ENST00000643860.1:c.*116+76_*116+77del	ENSP00000494389.1:n.*116+76_*116+77del
ENST00000646226.1:n.408-130_408-129del
ENST00000647109.1:c.252-130_252-129del
ENST00000650396.1:c.673+76_673+77del
ENST00000311916.6:c.1593-130_1593-129del	ENSP00000309595.2:n.1593-130_1593-129del
ENST00000370228.1:c.1593-130_1593-129del	ENSP00000359248.1:n.1593-130_1593-129del
ENST00000473656.5:n.414-130_414-129del
ENST00000476766.5:n.479-130_479-129del
NM_001163812.1:c.1593-130_1593-129del	NP_001157284.1:n.1593-130_1593-129del
NM_001163813.1:c.231-130_231-129del	NP_001157285.1:n.231-130_231-129del
NM_001163814.1:c.231-130_231-129del	NP_001157286.1:n.231-130_231-129del
NM_021830.4:c.1593-130_1593-129del	NP_068602.2:n.1593-130_1593-129del
XM_011539974.1:c.231-130_231-129del	XP_011538276.1:n.231-130_231-129del
XM_011539975.1:c.231-130_231-129del	XP_011538277.1:n.231-130_231-129del
XR_945788.1:n.2364-130_2364-129del
XM_011539975.2:c.231-130_231-129del	XP_011538277.1:n.231-130_231-129del
XM_017016437.1:c.231-130_231-129del	XP_016871926.1:n.231-130_231-129del
XR_001747142.1:n.1886+76_1886+77del
XR_001747144.1:n.1824+76_1824+77del
XR_002956991.1:n.1705-130_1705-129del
XR_945788.2:n.1705-130_1705-129del
NM_021830.5:c.1593-130_1593-129del MANE Select	NP_068602.2:n.1593-130_1593-129del
NM_001163812.2:c.1593-130_1593-129del	NP_001157284.1:n.1593-130_1593-129del
NM_001163813.2:c.231-130_231-129del	NP_001157285.1:n.231-130_231-129del
NM_001163814.2:c.231-130_231-129del	NP_001157286.1:n.231-130_231-129del
NM_001368275.1:c.231-130_231-129del	NP_001355204.1:n.231-130_231-129del
NR_160738.1:n.2380+76_2380+77del
NR_160739.1:n.540+76_540+77del
NR_160740.1:n.2199-130_2199-129del
NR_160741.1:n.2199-130_2199-129del
NR_160742.1:n.2318+76_2318+77del