Canonical Allele Identifier: CA2574645016

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988611del , CM000672.2:g.100988611del	GRCh38
NC_000010.10:g.102748368del , CM000672.1:g.102748368del	GRCh37
NC_000010.9:g.102738358del	NCBI36
NG_011646.1:g.3905del
NG_012624.1:g.6076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.401del MANE Select	ENSP00000309595.2:p.Asp134ValfsTer?
ENST00000370228.2:c.401del	ENSP00000359248.1:p.Asp134ValfsTer?
ENST00000643860.1:c.401del	ENSP00000494389.1:p.Asp134ValfsTer?
ENST00000646226.1:n.58+998del
ENST00000311916.6:c.401del	ENSP00000309595.2:p.Asp134ValfsTer?
ENST00000370228.1:c.401del	ENSP00000359248.1:p.Asp134ValfsTer?
ENST00000459764.1:n.86+731del
ENST00000473656.5:n.64+998del
ENST00000476766.5:n.191+1054del
NM_001163812.1:c.401del	NP_001157284.1:p.Asp134ValfsTer?
NM_001163813.1:c.-120+998del	NP_001157285.1:n.-120+998del
NM_001163814.1:c.-120+998del	NP_001157286.1:n.-120+998del
NM_021830.4:c.401del	NP_068602.2:p.Asp134ValfsTer?
XM_011539975.1:c.-58+998del	XP_011538277.1:n.-58+998del
XR_945788.1:n.1234del
XM_011539975.2:c.-58+998del	XP_011538277.1:n.-58+998del
XM_017016437.1:c.-900del	XP_016871926.1:n.-900del
XR_001747142.1:n.575del
XR_001747144.1:n.575del
XR_002956991.1:n.575del
XR_945788.2:n.575del
NM_021830.5:c.401del MANE Select	NP_068602.2:p.Asp134ValfsTer?
NM_001163812.2:c.401del	NP_001157284.1:p.Asp134ValfsTer?
NM_001163813.2:c.-120+998del	NP_001157285.1:n.-120+998del
NM_001163814.2:c.-120+998del	NP_001157286.1:n.-120+998del
NM_001368275.1:c.-58+998del	NP_001355204.1:n.-58+998del
NR_160738.1:n.1069del
NR_160739.1:n.71+998del
NR_160740.1:n.1069del
NR_160741.1:n.1069del
NR_160742.1:n.1069del