Canonical Allele Identifier: CA2580081139

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100991005_100991008del , CM000672.2:g.100991005_100991008del	GRCh38
NC_000010.10:g.102750762_102750765del , CM000672.1:g.102750762_102750765del	GRCh37
NC_000010.9:g.102740752_102740755del	NCBI36
NG_011646.1:g.1510_1513del
NG_012624.1:g.8470_8473del

Transcript Alleles

HGVS	Amino-acid Change
NM_021830.5:c.1729_1732del MANE Select	NP_068602.2:p.Ala577LysfsTer10
ENST00000311916.8:c.1729_1732del MANE Select	ENSP00000309595.2:p.Ala577LysfsTer10
NM_001163812.1:c.1729_1732del	NP_001157284.1:p.Ala577LysfsTer2
NM_001163812.2:c.1729_1732del	NP_001157284.1:p.Ala577LysfsTer2
NM_001163813.1:c.367_370del	NP_001157285.1:p.Ala123LysfsTer10
NM_001163813.2:c.367_370del	NP_001157285.1:p.Ala123LysfsTer10
NM_001163814.1:c.367_370del	NP_001157286.1:p.Ala123LysfsTer2
NM_001163814.2:c.367_370del	NP_001157286.1:p.Ala123LysfsTer2
NM_001368275.1:c.367_370del	NP_001355204.1:p.Ala123LysfsTer10
NM_021830.4:c.1729_1732del	NP_068602.2:p.Ala577LysfsTer10
NR_160738.1:n.2517_2520del
NR_160739.1:n.677_680del
NR_160740.1:n.2335_2338del
NR_160741.1:n.2335_2338del
NR_160742.1:n.2455_2458del
ENST00000311916.6:c.1729_1732del	ENSP00000309595.2:p.Ala577LysfsTer10
ENST00000370228.1:c.1729_1732del	ENSP00000359248.1:p.Ala577LysfsTer2
ENST00000370228.2:c.1729_1732del	ENSP00000359248.1:p.Ala577LysfsTer2
ENST00000473656.5:n.550_553del
ENST00000476766.5:n.615_618del
ENST00000643860.1:c.*253_*256del	ENSP00000494389.1:n.*253_*256del
ENST00000646226.1:n.544_547del
ENST00000647109.1:c.388_391del
ENST00000650396.1:c.810_813del
XM_011539974.1:c.367_370del	XP_011538276.1:p.Ala123LysfsTer10
XM_011539975.1:c.367_370del	XP_011538277.1:p.Ala123LysfsTer10
XM_011539975.2:c.367_370del	XP_011538277.1:p.Ala123LysfsTer10
XM_017016437.1:c.367_370del	XP_016871926.1:p.Ala123LysfsTer10
XR_001747142.1:n.2023_2026del
XR_001747144.1:n.1961_1964del
XR_002956991.1:n.1841_1844del
XR_945788.1:n.2500_2503del
XR_945788.2:n.1841_1844del