Canonical Allele Identifier: CA1932001076

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100994185_100994191delinsAGAATTG , CM000672.2:g.100994185_100994191delinsAGAATTG	GRCh38
NC_000010.10:g.102753942_102753948delinsAGAATTG , CM000672.1:g.102753942_102753948delinsAGAATTG	GRCh37
NC_000010.9:g.102743932_102743938delinsAGAATTG	NCBI36
NG_012624.1:g.11650_11656delinsAGAATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.*675_*681delinsAGAATTG MANE Select	ENSP00000309595.2:n.*675_*681delinsAGAATTG
ENST00000370228.2:c.*1025_*1031delinsAGAATTG	ENSP00000359248.1:n.*1025_*1031delinsAGAATTG
ENST00000643860.1:c.*1254_*1260delinsAGAATTG	ENSP00000494389.1:n.*1254_*1260delinsAGAATTG
ENST00000650396.1:c.1855_1861delinsAGAATTG
ENST00000311916.6:c.*675_*681delinsAGAATTG	ENSP00000309595.2:n.*675_*681delinsAGAATTG
ENST00000370228.1:c.*1025_*1031delinsAGAATTG	ENSP00000359248.1:n.*1025_*1031delinsAGAATTG
NM_001163812.1:c.*1025_*1031delinsAGAATTG	NP_001157284.1:n.*1025_*1031delinsAGAATTG
NM_001163813.1:c.*675_*681delinsAGAATTG	NP_001157285.1:n.*675_*681delinsAGAATTG
NM_001163814.1:c.*1025_*1031delinsAGAATTG	NP_001157286.1:n.*1025_*1031delinsAGAATTG
NM_021830.4:c.*675_*681delinsAGAATTG	NP_068602.2:n.*675_*681delinsAGAATTG
XM_011539974.1:c.*675_*681delinsAGAATTG	XP_011538276.1:n.*675_*681delinsAGAATTG
XM_011539975.1:c.*675_*681delinsAGAATTG	XP_011538277.1:n.*675_*681delinsAGAATTG
XM_011539975.2:c.*675_*681delinsAGAATTG	XP_011538277.1:n.*675_*681delinsAGAATTG
XM_017016437.1:c.*675_*681delinsAGAATTG	XP_016871926.1:n.*675_*681delinsAGAATTG
XR_001747142.1:n.3024_3030delinsAGAATTG
XR_001747144.1:n.3006_3012delinsAGAATTG
XR_002956991.1:n.2842_2848delinsAGAATTG
XR_945788.2:n.2886_2892delinsAGAATTG
NM_021830.5:c.*675_*681delinsAGAATTG MANE Select	NP_068602.2:n.*675_*681delinsAGAATTG
NM_001163812.2:c.*1025_*1031delinsAGAATTG	NP_001157284.1:n.*1025_*1031delinsAGAATTG
NM_001163813.2:c.*675_*681delinsAGAATTG	NP_001157285.1:n.*675_*681delinsAGAATTG
NM_001163814.2:c.*1025_*1031delinsAGAATTG	NP_001157286.1:n.*1025_*1031delinsAGAATTG
NM_001368275.1:c.*675_*681delinsAGAATTG	NP_001355204.1:n.*675_*681delinsAGAATTG
NR_160738.1:n.3518_3524delinsAGAATTG
NR_160739.1:n.1722_1728delinsAGAATTG
NR_160740.1:n.3380_3386delinsAGAATTG
NR_160741.1:n.3336_3342delinsAGAATTG
NR_160742.1:n.3500_3506delinsAGAATTG