Canonical Allele Identifier: CA2322386887
Gene: TYK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10352085_10352087delinsCTG , CM000681.2:g.10352085_10352087delinsCTG GRCh38
NC_000019.9:g.10462761_10462763delinsCTG , CM000681.1:g.10462761_10462763delinsCTG GRCh37
NC_000019.8:g.10323761_10323763delinsCTG NCBI36
NG_007872.1:g.33486_33488delinsCAG , LRG_121:g.33486_33488delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*1667+347_*1667+349delinsCAG ENSP00000514307.1:n.*1667+347_*1667+349delinsCAG
ENST00000525976.6:c.3318+347_3318+349delinsCAG ENSP00000434831.2:n.3318+347_3318+349delinsCAG
ENST00000527481.3:c.*88+347_*88+349delinsCAG ENSP00000466340.2:n.*88+347_*88+349delinsCAG
ENST00000529370.6:n.4694+347_4694+349delinsCAG
ENST00000529739.2:n.4127+347_4127+349delinsCAG
ENST00000530829.2:c.*2869+347_*2869+349delinsCAG ENSP00000436826.2:n.*2869+347_*2869+349delinsCAG
ENST00000531836.6:c.3318+347_3318+349delinsCAG ENSP00000436175.2:n.3318+347_3318+349delinsCAG
ENST00000533334.2:c.*1242+839_*1242+841delinsCAG ENSP00000432320.2:n.*1242+839_*1242+841delinsCAG
ENST00000534228.2:n.5054+839_5054+841delinsCAG
ENST00000699354.1:n.1420+347_1420+349delinsCAG
ENST00000699355.1:c.*2818+347_*2818+349delinsCAG ENSP00000514328.1:n.*2818+347_*2818+349delinsCAG
ENST00000699356.1:n.4127+347_4127+349delinsCAG
ENST00000699357.1:n.5172+347_5172+349delinsCAG
ENST00000699358.1:c.3200+839_3200+841delinsCAG ENSP00000514329.1:n.3200+839_3200+841delinsCAG
ENST00000699359.1:c.492+347_492+349delinsCAG
ENST00000699360.1:c.3276+347_3276+349delinsCAG ENSP00000514331.1:n.3276+347_3276+349delinsCAG
ENST00000699361.1:n.352+347_352+349delinsCAG
ENST00000699362.1:c.214+347_214+349delinsCAG ENSP00000514332.1:n.214+347_214+349delinsCAG
ENST00000699363.1:c.214+347_214+349delinsCAG ENSP00000514333.1:n.214+347_214+349delinsCAG
ENST00000699364.1:n.318+347_318+349delinsCAG
ENST00000699365.1:c.387+347_387+349delinsCAG ENSP00000514334.1:n.387+347_387+349delinsCAG
ENST00000699366.1:n.112-1119_112-1117delinsCAG
ENST00000699367.1:n.112-925_112-923delinsCAG
ENST00000699368.1:c.805+347_805+349delinsCAG ENSP00000514335.1:n.805+347_805+349delinsCAG
ENST00000525621.6:c.3318+347_3318+349delinsCAG MANE Select ENSP00000431885.1:n.3318+347_3318+349delinsCAG
ENST00000264818.10:c.3318+347_3318+349delinsCAG ENSP00000264818.6:n.3318+347_3318+349delinsCAG
ENST00000524462.5:c.2763+347_2763+349delinsCAG ENSP00000433203.1:n.2763+347_2763+349delinsCAG
ENST00000525621.5:c.3318+347_3318+349delinsCAG ENSP00000431885.1:n.3318+347_3318+349delinsCAG
ENST00000525976.5:c.59+347_59+349delinsCAG
ENST00000527481.2:c.495+347_495+349delinsCAG
ENST00000529422.1:n.117-794_117-792delinsCAG
ENST00000530220.1:n.331+839_331+841delinsCAG
ENST00000530560.5:c.338-1119_338-1117delinsCAG ENSP00000465291.1:n.338-1119_338-1117delinsCAG
ENST00000592137.1:n.472+347_472+349delinsCAG
NM_003331.4:c.3318+347_3318+349delinsCAG , LRG_121t1:c.3318+347_3318+349delinsCAG NP_003322.3:n.3318+347_3318+349delinsCAG
XM_011528245.1:c.3318+347_3318+349delinsCAG XP_011526547.1:n.3318+347_3318+349delinsCAG
XM_011528246.1:c.3021+347_3021+349delinsCAG XP_011526548.1:n.3021+347_3021+349delinsCAG
XM_011528247.1:c.3021+347_3021+349delinsCAG XP_011526549.1:n.3021+347_3021+349delinsCAG
XM_011528248.1:c.3200+839_3200+841delinsCAG XP_011526550.1:n.3200+839_3200+841delinsCAG
XM_011528249.1:c.1992+347_1992+349delinsCAG XP_011526551.1:n.1992+347_1992+349delinsCAG
XM_011528251.1:c.1575+347_1575+349delinsCAG XP_011526553.1:n.1575+347_1575+349delinsCAG
XM_011528246.3:c.3021+347_3021+349delinsCAG XP_011526548.1:n.3021+347_3021+349delinsCAG
XM_011528249.2:c.1992+347_1992+349delinsCAG XP_011526551.1:n.1992+347_1992+349delinsCAG
XR_001753750.1:n.3357+839_3357+841delinsCAG
XR_001753751.1:n.3870+347_3870+349delinsCAG
XR_002958353.1:n.4796+347_4796+349delinsCAG
NM_003331.5:c.3318+347_3318+349delinsCAG MANE Select NP_003322.3:n.3318+347_3318+349delinsCAG
NM_001385197.1:c.3318+347_3318+349delinsCAG NP_001372126.1:n.3318+347_3318+349delinsCAG
NM_001385198.1:c.3168+871_3168+873delinsCAG NP_001372127.1:n.3168+871_3168+873delinsCAG
NM_001385199.1:c.3132+347_3132+349delinsCAG NP_001372128.1:n.3132+347_3132+349delinsCAG
NM_001385200.1:c.3315+347_3315+349delinsCAG NP_001372129.1:n.3315+347_3315+349delinsCAG
NM_001385201.1:c.3120+347_3120+349delinsCAG NP_001372130.1:n.3120+347_3120+349delinsCAG
NM_001385202.1:c.3234+347_3234+349delinsCAG NP_001372131.1:n.3234+347_3234+349delinsCAG
NM_001385203.1:c.3399+347_3399+349delinsCAG NP_001372132.1:n.3399+347_3399+349delinsCAG
NM_001385204.1:c.3528+347_3528+349delinsCAG NP_001372133.1:n.3528+347_3528+349delinsCAG
NM_001385205.1:c.3228+347_3228+349delinsCAG NP_001372134.1:n.3228+347_3228+349delinsCAG
NM_001385206.1:c.3192+347_3192+349delinsCAG NP_001372135.1:n.3192+347_3192+349delinsCAG
NM_001385207.1:c.3300+347_3300+349delinsCAG NP_001372136.1:n.3300+347_3300+349delinsCAG