Canonical Allele Identifier: CA1316273870

Gene: STAT1

Linked Data

• dbSNP Id: rs1692098014
• gnomAD v3: 2-190978636-TTTTCAAAACCATCATTTCCACAA-T
• gnomAD v4: 2-190978636-TTTTCAAAACCATCATTTCCACAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190978638_190978660del , CM000664.2:g.190978638_190978660del	GRCh38
NC_000002.11:g.191843364_191843386del , CM000664.1:g.191843364_191843386del	GRCh37
NC_000002.10:g.191551609_191551631del	NCBI36
NG_008294.1:g.40592_40614del , LRG_111:g.40592_40614del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698141.1:c.1873+197_1873+219del	ENSP00000513582.1:n.1873+197_1873+219del
ENST00000698142.1:c.1813+197_1813+219del	ENSP00000513583.1:n.1813+197_1813+219del
ENST00000698143.1:n.3746+197_3746+219del
ENST00000698144.1:c.*1199+197_*1199+219del	ENSP00000513584.1:n.*1199+197_*1199+219del
ENST00000698145.1:c.634-8910_634-8888del	ENSP00000513585.1:n.634-8910_634-8888del
ENST00000698146.1:c.*1623+197_*1623+219del	ENSP00000513586.1:n.*1623+197_*1623+219del
ENST00000698147.1:n.3393+197_3393+219del
ENST00000698148.1:n.3723+197_3723+219del
ENST00000698149.1:c.1873+197_1873+219del	ENSP00000513587.1:n.1873+197_1873+219del
ENST00000698150.1:n.171_193del
ENST00000361099.8:c.1873+197_1873+219del MANE Select	ENSP00000354394.4:n.1873+197_1873+219del
ENST00000415035.2:c.1873+197_1873+219del	ENSP00000388240.2:n.1873+197_1873+219del
ENST00000423282.2:c.129-1634_129-1612del	ENSP00000388772.2:n.129-1634_129-1612del
ENST00000452281.6:c.*1199+197_*1199+219del	ENSP00000394512.1:n.*1199+197_*1199+219del
ENST00000540176.6:c.1873+197_1873+219del	ENSP00000438703.2:n.1873+197_1873+219del
ENST00000673734.1:c.*1040+197_*1040+219del	ENSP00000501040.1:n.*1040+197_*1040+219del
ENST00000673762.1:n.372+197_372+219del
ENST00000673777.1:c.1867+197_1867+219del	ENSP00000500982.1:n.1867+197_1867+219del
ENST00000673816.1:c.1873+197_1873+219del	ENSP00000501127.1:n.1873+197_1873+219del
ENST00000673832.1:n.425+197_425+219del
ENST00000673841.1:c.1873+197_1873+219del	ENSP00000501225.1:n.1873+197_1873+219del
ENST00000673847.1:c.1873+197_1873+219del	ENSP00000501185.1:n.1873+197_1873+219del
ENST00000673858.1:c.*1199+197_*1199+219del	ENSP00000501196.1:n.*1199+197_*1199+219del
ENST00000673863.1:c.582+197_582+219del	ENSP00000501286.1:n.582+197_582+219del
ENST00000673885.1:c.*59+197_*59+219del	ENSP00000501159.1:n.*59+197_*59+219del
ENST00000673942.1:c.1867+197_1867+219del	ENSP00000501145.1:n.1867+197_1867+219del
ENST00000673952.1:c.1873+197_1873+219del	ENSP00000501115.1:n.1873+197_1873+219del
ENST00000674028.1:n.311-1618_311-1596del
ENST00000674080.1:c.1873+197_1873+219del	ENSP00000501164.1:n.1873+197_1873+219del
ENST00000674081.1:c.1873+197_1873+219del	ENSP00000501289.1:n.1873+197_1873+219del
ENST00000674153.1:c.1874-53_1874-31del	ENSP00000501120.1:n.1874-53_1874-31del
ENST00000361099.7:c.1873+197_1873+219del	ENSP00000354394.3:n.1873+197_1873+219del
ENST00000392322.7:c.1873+197_1873+219del	ENSP00000376136.3:n.1873+197_1873+219del
ENST00000392323.6:c.1879+197_1879+219del	ENSP00000376137.2:n.1879+197_1879+219del
ENST00000409465.5:c.1873+197_1873+219del	ENSP00000386244.1:n.1873+197_1873+219del
ENST00000452281.5:c.*1199+197_*1199+219del	ENSP00000394512.1:n.*1199+197_*1199+219del
ENST00000464072.1:n.697_719del
ENST00000540176.5:c.*1199+197_*1199+219del	ENSP00000438703.1:n.*1199+197_*1199+219del
NM_007315.3:c.1873+197_1873+219del , LRG_111t1:c.1873+197_1873+219del	NP_009330.1:n.1873+197_1873+219del
NM_139266.2:c.1873+197_1873+219del	NP_644671.1:n.1873+197_1873+219del
XM_006712718.1:c.1873+197_1873+219del	XP_006712781.1:n.1873+197_1873+219del
XM_017004783.2:c.1879+197_1879+219del	XP_016860272.1:n.1879+197_1879+219del
XR_001738914.2:n.2266+197_2266+219del
XR_001738915.2:n.2208+197_2208+219del
NM_007315.4:c.1873+197_1873+219del MANE Select	NP_009330.1:n.1873+197_1873+219del
NM_001384880.1:c.1813+197_1813+219del	NP_001371809.1:n.1813+197_1813+219del
NM_001384881.1:c.1879+197_1879+219del	NP_001371810.1:n.1879+197_1879+219del
NM_001384882.1:c.1867+197_1867+219del	NP_001371811.1:n.1867+197_1867+219del
NM_001384883.1:c.1774+197_1774+219del	NP_001371812.1:n.1774+197_1774+219del
NM_001384884.1:c.1879+197_1879+219del	NP_001371813.1:n.1879+197_1879+219del
NM_001384885.1:c.1714+197_1714+219del	NP_001371814.1:n.1714+197_1714+219del
NM_001384886.1:c.1873+197_1873+219del	NP_001371815.1:n.1873+197_1873+219del
NM_001384887.1:c.1780+197_1780+219del	NP_001371816.1:n.1780+197_1780+219del
NM_001384888.1:c.1843+197_1843+219del	NP_001371817.1:n.1843+197_1843+219del
NM_001384889.1:c.1873+197_1873+219del	NP_001371818.1:n.1873+197_1873+219del
NM_001384890.1:c.1783+197_1783+219del	NP_001371819.1:n.1783+197_1783+219del
NM_001384891.1:c.1909+197_1909+219del	NP_001371820.1:n.1909+197_1909+219del
NM_139266.3:c.1873+197_1873+219del	NP_644671.1:n.1873+197_1873+219del