Canonical Allele Identifier: CA1932023068

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990548_100990549delinsCG , CM000672.2:g.100990548_100990549delinsCG	GRCh38
NC_000010.10:g.102750305_102750306delinsCG , CM000672.1:g.102750305_102750306delinsCG	GRCh37
NC_000010.9:g.102740295_102740296delinsCG	NCBI36
NG_011646.1:g.1967_1968delinsCG
NG_012624.1:g.8013_8014delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.1592+5_1592+6delinsCG MANE Select	ENSP00000309595.2:n.1592+5_1592+6delinsCG
ENST00000370228.2:c.1592+5_1592+6delinsCG	ENSP00000359248.1:n.1592+5_1592+6delinsCG
ENST00000643860.1:c.*1_*2delinsCG	ENSP00000494389.1:n.*1_*2delinsCG
ENST00000646226.1:n.407+5_407+6delinsCG
ENST00000647109.1:c.251+5_251+6delinsCG
ENST00000650396.1:c.558_559delinsCG
ENST00000311916.6:c.1592+5_1592+6delinsCG	ENSP00000309595.2:n.1592+5_1592+6delinsCG
ENST00000370228.1:c.1592+5_1592+6delinsCG	ENSP00000359248.1:n.1592+5_1592+6delinsCG
ENST00000473656.5:n.413+5_413+6delinsCG
ENST00000476766.5:n.478+5_478+6delinsCG
NM_001163812.1:c.1592+5_1592+6delinsCG	NP_001157284.1:n.1592+5_1592+6delinsCG
NM_001163813.1:c.230+5_230+6delinsCG	NP_001157285.1:n.230+5_230+6delinsCG
NM_001163814.1:c.230+5_230+6delinsCG	NP_001157286.1:n.230+5_230+6delinsCG
NM_021830.4:c.1592+5_1592+6delinsCG	NP_068602.2:n.1592+5_1592+6delinsCG
XM_011539974.1:c.230+5_230+6delinsCG	XP_011538276.1:n.230+5_230+6delinsCG
XM_011539975.1:c.230+5_230+6delinsCG	XP_011538277.1:n.230+5_230+6delinsCG
XR_945788.1:n.2363+5_2363+6delinsCG
XM_011539975.2:c.230+5_230+6delinsCG	XP_011538277.1:n.230+5_230+6delinsCG
XM_017016437.1:c.230+5_230+6delinsCG	XP_016871926.1:n.230+5_230+6delinsCG
XR_001747142.1:n.1771_1772delinsCG
XR_001747144.1:n.1709_1710delinsCG
XR_002956991.1:n.1704+5_1704+6delinsCG
XR_945788.2:n.1704+5_1704+6delinsCG
NM_021830.5:c.1592+5_1592+6delinsCG MANE Select	NP_068602.2:n.1592+5_1592+6delinsCG
NM_001163812.2:c.1592+5_1592+6delinsCG	NP_001157284.1:n.1592+5_1592+6delinsCG
NM_001163813.2:c.230+5_230+6delinsCG	NP_001157285.1:n.230+5_230+6delinsCG
NM_001163814.2:c.230+5_230+6delinsCG	NP_001157286.1:n.230+5_230+6delinsCG
NM_001368275.1:c.230+5_230+6delinsCG	NP_001355204.1:n.230+5_230+6delinsCG
NR_160738.1:n.2265_2266delinsCG
NR_160739.1:n.425_426delinsCG
NR_160740.1:n.2198+5_2198+6delinsCG
NR_160741.1:n.2198+5_2198+6delinsCG
NR_160742.1:n.2203_2204delinsCG