Canonical Allele Identifier: CA1932019399

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988902_100988904delinsTGA , CM000672.2:g.100988902_100988904delinsTGA	GRCh38
NC_000010.10:g.102748659_102748661delinsTGA , CM000672.1:g.102748659_102748661delinsTGA	GRCh37
NC_000010.9:g.102738649_102738651delinsTGA	NCBI36
NG_011646.1:g.3612_3614delinsTCA
NG_012624.1:g.6367_6369delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.692_694delinsTGA MANE Select	ENSP00000309595.2:p.Val231=
ENST00000370228.2:c.692_694delinsTGA	ENSP00000359248.1:p.Val231=
ENST00000643860.1:c.692_694delinsTGA	ENSP00000494389.1:p.Val231=
ENST00000646226.1:n.59-742_59-740delinsTGA
ENST00000311916.6:c.692_694delinsTGA	ENSP00000309595.2:p.Val231=
ENST00000370228.1:c.692_694delinsTGA	ENSP00000359248.1:p.Val231=
ENST00000459764.1:n.87-742_87-740delinsTGA
ENST00000473656.5:n.65-742_65-740delinsTGA
ENST00000476766.5:n.192-804_192-802delinsTGA
NM_001163812.1:c.692_694delinsTGA	NP_001157284.1:p.Val231=
NM_001163813.1:c.-119-742_-119-740delinsTGA	NP_001157285.1:n.-119-742_-119-740delinsTGA
NM_001163814.1:c.-119-742_-119-740delinsTGA	NP_001157286.1:n.-119-742_-119-740delinsTGA
NM_021830.4:c.692_694delinsTGA	NP_068602.2:p.Val231=
XM_011539975.1:c.-57-804_-57-802delinsTGA	XP_011538277.1:n.-57-804_-57-802delinsTGA
XR_945788.1:n.1525_1527delinsTGA
XM_011539975.2:c.-57-804_-57-802delinsTGA	XP_011538277.1:n.-57-804_-57-802delinsTGA
XM_017016437.1:c.-609_-607delinsTGA	XP_016871926.1:n.-609_-607delinsTGA
XR_001747142.1:n.866_868delinsTGA
XR_001747144.1:n.866_868delinsTGA
XR_002956991.1:n.866_868delinsTGA
XR_945788.2:n.866_868delinsTGA
NM_021830.5:c.692_694delinsTGA MANE Select	NP_068602.2:p.Val231=
NM_001163812.2:c.692_694delinsTGA	NP_001157284.1:p.Val231=
NM_001163813.2:c.-119-742_-119-740delinsTGA	NP_001157285.1:n.-119-742_-119-740delinsTGA
NM_001163814.2:c.-119-742_-119-740delinsTGA	NP_001157286.1:n.-119-742_-119-740delinsTGA
NM_001368275.1:c.-57-804_-57-802delinsTGA	NP_001355204.1:n.-57-804_-57-802delinsTGA
NR_160738.1:n.1360_1362delinsTGA
NR_160739.1:n.72-742_72-740delinsTGA
NR_160740.1:n.1360_1362delinsTGA
NR_160741.1:n.1360_1362delinsTGA
NR_160742.1:n.1360_1362delinsTGA