Canonical Allele Identifier: CA2843066075

Gene: TYK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10361775_10361776del , CM000681.2:g.10361775_10361776del	GRCh38
NC_000019.9:g.10472451_10472452del , CM000681.1:g.10472451_10472452del	GRCh37
NC_000019.8:g.10333451_10333452del	NCBI36
NG_007872.1:g.23798_23799del , LRG_121:g.23798_23799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*303_*304del	ENSP00000514307.1:n.*303_*304del
ENST00000525976.6:c.1954_1955del	ENSP00000434831.2:p.Ala652ProfsTer30
ENST00000527481.3:c.1954_1955del	ENSP00000466340.2:p.Ala652ProfsTer30
ENST00000529370.6:n.2285_2286del
ENST00000529739.2:n.2368_2369del
ENST00000530829.2:c.*1505_*1506del	ENSP00000436826.2:n.*1505_*1506del
ENST00000531836.6:c.1954_1955del	ENSP00000436175.2:p.Ala652ProfsTer30
ENST00000533334.2:c.1954_1955del	ENSP00000432320.2:p.Ala652ProfsTer30
ENST00000534228.2:n.2368_2369del
ENST00000699355.1:c.*14_*15del	ENSP00000514328.1:n.*14_*15del
ENST00000699356.1:n.2368_2369del
ENST00000699357.1:n.2368_2369del
ENST00000699358.1:c.1954_1955del	ENSP00000514329.1:p.Ala652ProfsTer30
ENST00000699360.1:c.1954_1955del	ENSP00000514331.1:p.Ala652ProfsTer30
ENST00000525621.6:c.1954_1955del MANE Select	ENSP00000431885.1:p.Ala652ProfsTer30
ENST00000264818.10:c.1954_1955del	ENSP00000264818.6:p.Ala652ProfsTer30
ENST00000524462.5:c.1399_1400del	ENSP00000433203.1:p.Ala467ProfsTer30
ENST00000525621.5:c.1954_1955del	ENSP00000431885.1:p.Ala652ProfsTer30
ENST00000529370.5:c.1954_1955del	ENSP00000432728.1:p.Ala652ProfsTer30
ENST00000531620.1:n.287_288del
ENST00000533334.1:c.131_132del
NM_003331.4:c.1954_1955del , LRG_121t1:c.1954_1955del	NP_003322.3:p.Ala652ProfsTer30
XM_011528245.1:c.1954_1955del	XP_011526547.1:p.Ala652ProfsTer30
XM_011528246.1:c.1657_1658del	XP_011526548.1:p.Ala553ProfsTer30
XM_011528247.1:c.1657_1658del	XP_011526549.1:p.Ala553ProfsTer30
XM_011528248.1:c.1954_1955del	XP_011526550.1:p.Ala652ProfsTer30
XM_011528249.1:c.628_629del	XP_011526551.1:p.Ala210ProfsTer30
XM_011528250.1:c.1954_1955del	XP_011526552.1:p.Ala652ProfsTer30
XM_011528251.1:c.211_212del	XP_011526553.1:p.Ala71ProfsTer30
XM_011528252.1:c.*14_*15del	XP_011526554.1:n.*14_*15del
XM_011528246.3:c.1657_1658del	XP_011526548.1:p.Ala553ProfsTer30
XM_011528249.2:c.628_629del	XP_011526551.1:p.Ala210ProfsTer30
XR_001753750.1:n.2111_2112del
XR_001753751.1:n.2111_2112del
XR_001753752.1:n.2111_2112del
XR_002958353.1:n.1992_1993del
NM_003331.5:c.1954_1955del MANE Select	NP_003322.3:p.Ala652ProfsTer30
NM_001385197.1:c.1954_1955del	NP_001372126.1:p.Ala652ProfsTer30
NM_001385198.1:c.1954_1955del	NP_001372127.1:p.Ala652ProfsTer30
NM_001385199.1:c.1774-177_1774-176del	NP_001372128.1:n.1774-177_1774-176del
NM_001385200.1:c.1954_1955del	NP_001372129.1:p.Ala652ProfsTer30
NM_001385201.1:c.1756_1757del	NP_001372130.1:p.Ala586ProfsTer30
NM_001385202.1:c.1870_1871del	NP_001372131.1:p.Ala624ProfsTer30
NM_001385203.1:c.1954_1955del	NP_001372132.1:p.Ala652ProfsTer30
NM_001385204.1:c.1954_1955del	NP_001372133.1:p.Ala652ProfsTer30
NM_001385205.1:c.1864_1865del	NP_001372134.1:p.Ala622ProfsTer30
NM_001385206.1:c.1828_1829del	NP_001372135.1:p.Ala610ProfsTer30
NM_001385207.1:c.1936_1937del	NP_001372136.1:p.Ala646ProfsTer30