Canonical Allele Identifier: CA1932019638

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988997_100989002delinsACGAGT , CM000672.2:g.100988997_100989002delinsACGAGT	GRCh38
NC_000010.10:g.102748754_102748759delinsACGAGT , CM000672.1:g.102748754_102748759delinsACGAGT	GRCh37
NC_000010.9:g.102738744_102738749delinsACGAGT	NCBI36
NG_011646.1:g.3514_3519delinsACTCGT
NG_012624.1:g.6462_6467delinsACGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.787_792delinsACGAGT MANE Select	ENSP00000309595.2:p.Thr263=
ENST00000370228.2:c.787_792delinsACGAGT	ENSP00000359248.1:p.Thr263=
ENST00000643860.1:c.787_792delinsACGAGT	ENSP00000494389.1:p.Thr263=
ENST00000646226.1:n.59-647_59-642delinsACGAGT
ENST00000311916.6:c.787_792delinsACGAGT	ENSP00000309595.2:p.Thr263=
ENST00000370228.1:c.787_792delinsACGAGT	ENSP00000359248.1:p.Thr263=
ENST00000459764.1:n.87-647_87-642delinsACGAGT
ENST00000473656.5:n.65-647_65-642delinsACGAGT
ENST00000476766.5:n.192-709_192-704delinsACGAGT
NM_001163812.1:c.787_792delinsACGAGT	NP_001157284.1:p.Thr263=
NM_001163813.1:c.-119-647_-119-642delinsACGAGT	NP_001157285.1:n.-119-647_-119-642delinsACGAGT
NM_001163814.1:c.-119-647_-119-642delinsACGAGT	NP_001157286.1:n.-119-647_-119-642delinsACGAGT
NM_021830.4:c.787_792delinsACGAGT	NP_068602.2:p.Thr263=
XM_011539975.1:c.-57-709_-57-704delinsACGAGT	XP_011538277.1:n.-57-709_-57-704delinsACGAGT
XR_945788.1:n.1620_1625delinsACGAGT
XM_011539975.2:c.-57-709_-57-704delinsACGAGT	XP_011538277.1:n.-57-709_-57-704delinsACGAGT
XM_017016437.1:c.-514_-509delinsACGAGT	XP_016871926.1:n.-514_-509delinsACGAGT
XR_001747142.1:n.961_966delinsACGAGT
XR_001747144.1:n.961_966delinsACGAGT
XR_002956991.1:n.961_966delinsACGAGT
XR_945788.2:n.961_966delinsACGAGT
NM_021830.5:c.787_792delinsACGAGT MANE Select	NP_068602.2:p.Thr263=
NM_001163812.2:c.787_792delinsACGAGT	NP_001157284.1:p.Thr263=
NM_001163813.2:c.-119-647_-119-642delinsACGAGT	NP_001157285.1:n.-119-647_-119-642delinsACGAGT
NM_001163814.2:c.-119-647_-119-642delinsACGAGT	NP_001157286.1:n.-119-647_-119-642delinsACGAGT
NM_001368275.1:c.-57-709_-57-704delinsACGAGT	NP_001355204.1:n.-57-709_-57-704delinsACGAGT
NR_160738.1:n.1455_1460delinsACGAGT
NR_160739.1:n.72-647_72-642delinsACGAGT
NR_160740.1:n.1455_1460delinsACGAGT
NR_160741.1:n.1455_1460delinsACGAGT
NR_160742.1:n.1455_1460delinsACGAGT