Canonical Allele Identifier: CA2574645061

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100989171_100989174del , CM000672.2:g.100989171_100989174del	GRCh38
NC_000010.10:g.102748928_102748931del , CM000672.1:g.102748928_102748931del	GRCh37
NC_000010.9:g.102738918_102738921del	NCBI36
NG_011646.1:g.3345_3348del
NG_012624.1:g.6636_6639del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.961_964del MANE Select	ENSP00000309595.2:p.Phe321HisfsTer4
ENST00000370228.2:c.961_964del	ENSP00000359248.1:p.Phe321HisfsTer4
ENST00000643860.1:c.961_964del	ENSP00000494389.1:p.Phe321HisfsTer4
ENST00000646226.1:n.59-473_59-470del
ENST00000311916.6:c.961_964del	ENSP00000309595.2:p.Phe321HisfsTer4
ENST00000370228.1:c.961_964del	ENSP00000359248.1:p.Phe321HisfsTer4
ENST00000459764.1:n.87-473_87-470del
ENST00000473656.5:n.65-473_65-470del
ENST00000476766.5:n.192-535_192-532del
NM_001163812.1:c.961_964del	NP_001157284.1:p.Phe321HisfsTer4
NM_001163813.1:c.-119-473_-119-470del	NP_001157285.1:n.-119-473_-119-470del
NM_001163814.1:c.-119-473_-119-470del	NP_001157286.1:n.-119-473_-119-470del
NM_021830.4:c.961_964del	NP_068602.2:p.Phe321HisfsTer4
XM_011539975.1:c.-57-535_-57-532del	XP_011538277.1:n.-57-535_-57-532del
XR_945788.1:n.1794_1797del
XM_011539975.2:c.-57-535_-57-532del	XP_011538277.1:n.-57-535_-57-532del
XM_017016437.1:c.-340_-337del	XP_016871926.1:n.-340_-337del
XR_001747142.1:n.1135_1138del
XR_001747144.1:n.1135_1138del
XR_002956991.1:n.1135_1138del
XR_945788.2:n.1135_1138del
NM_021830.5:c.961_964del MANE Select	NP_068602.2:p.Phe321HisfsTer4
NM_001163812.2:c.961_964del	NP_001157284.1:p.Phe321HisfsTer4
NM_001163813.2:c.-119-473_-119-470del	NP_001157285.1:n.-119-473_-119-470del
NM_001163814.2:c.-119-473_-119-470del	NP_001157286.1:n.-119-473_-119-470del
NM_001368275.1:c.-57-535_-57-532del	NP_001355204.1:n.-57-535_-57-532del
NR_160738.1:n.1629_1632del
NR_160739.1:n.72-473_72-470del
NR_160740.1:n.1629_1632del
NR_160741.1:n.1629_1632del
NR_160742.1:n.1629_1632del