Canonical Allele Identifier: CA1932019492

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988930_100988931delinsAC , CM000672.2:g.100988930_100988931delinsAC	GRCh38
NC_000010.10:g.102748687_102748688delinsAC , CM000672.1:g.102748687_102748688delinsAC	GRCh37
NC_000010.9:g.102738677_102738678delinsAC	NCBI36
NG_011646.1:g.3585_3586delinsGT
NG_012624.1:g.6395_6396delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.720_721delinsAC MANE Select	ENSP00000309595.2:p.Arg240=
ENST00000370228.2:c.720_721delinsAC	ENSP00000359248.1:p.Arg240=
ENST00000643860.1:c.720_721delinsAC	ENSP00000494389.1:p.Arg240=
ENST00000646226.1:n.59-714_59-713delinsAC
ENST00000311916.6:c.720_721delinsAC	ENSP00000309595.2:p.Arg240=
ENST00000370228.1:c.720_721delinsAC	ENSP00000359248.1:p.Arg240=
ENST00000459764.1:n.87-714_87-713delinsAC
ENST00000473656.5:n.65-714_65-713delinsAC
ENST00000476766.5:n.192-776_192-775delinsAC
NM_001163812.1:c.720_721delinsAC	NP_001157284.1:p.Arg240=
NM_001163813.1:c.-119-714_-119-713delinsAC	NP_001157285.1:n.-119-714_-119-713delinsAC
NM_001163814.1:c.-119-714_-119-713delinsAC	NP_001157286.1:n.-119-714_-119-713delinsAC
NM_021830.4:c.720_721delinsAC	NP_068602.2:p.Arg240=
XM_011539975.1:c.-57-776_-57-775delinsAC	XP_011538277.1:n.-57-776_-57-775delinsAC
XR_945788.1:n.1553_1554delinsAC
XM_011539975.2:c.-57-776_-57-775delinsAC	XP_011538277.1:n.-57-776_-57-775delinsAC
XM_017016437.1:c.-581_-580delinsAC	XP_016871926.1:n.-581_-580delinsAC
XR_001747142.1:n.894_895delinsAC
XR_001747144.1:n.894_895delinsAC
XR_002956991.1:n.894_895delinsAC
XR_945788.2:n.894_895delinsAC
NM_021830.5:c.720_721delinsAC MANE Select	NP_068602.2:p.Arg240=
NM_001163812.2:c.720_721delinsAC	NP_001157284.1:p.Arg240=
NM_001163813.2:c.-119-714_-119-713delinsAC	NP_001157285.1:n.-119-714_-119-713delinsAC
NM_001163814.2:c.-119-714_-119-713delinsAC	NP_001157286.1:n.-119-714_-119-713delinsAC
NM_001368275.1:c.-57-776_-57-775delinsAC	NP_001355204.1:n.-57-776_-57-775delinsAC
NR_160738.1:n.1388_1389delinsAC
NR_160739.1:n.72-714_72-713delinsAC
NR_160740.1:n.1388_1389delinsAC
NR_160741.1:n.1388_1389delinsAC
NR_160742.1:n.1388_1389delinsAC