Canonical Allele Identifier: CA1040537378

Gene: STAT1

Linked Data

• gnomAD v3: 2-190995803-C-CGA
• gnomAD v4: 2-190995803-C-CGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190995803_190995804insGA , CM000664.2:g.190995803_190995804insGA	GRCh38
NC_000002.11:g.191860529_191860530insGA , CM000664.1:g.191860529_191860530insGA	GRCh37
NC_000002.10:g.191568774_191568775insGA	NCBI36
NG_008294.1:g.23447_23448insTC , LRG_111:g.23447_23448insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698141.1:c.786-585_786-584insTC	ENSP00000513582.1:n.786-585_786-584insTC
ENST00000698142.1:c.786-585_786-584insTC	ENSP00000513583.1:n.786-585_786-584insTC
ENST00000698143.1:n.946-585_946-584insTC
ENST00000698144.1:c.*112-585_*112-584insTC	ENSP00000513584.1:n.*112-585_*112-584insTC
ENST00000698145.1:c.633+2413_633+2414insTC	ENSP00000513585.1:n.633+2413_633+2414insTC
ENST00000698146.1:c.*536-585_*536-584insTC	ENSP00000513586.1:n.*536-585_*536-584insTC
ENST00000698147.1:n.1113-585_1113-584insTC
ENST00000698148.1:n.1113-585_1113-584insTC
ENST00000698149.1:c.786-585_786-584insTC	ENSP00000513587.1:n.786-585_786-584insTC
ENST00000698151.1:n.1113-585_1113-584insTC
ENST00000361099.8:c.786-585_786-584insTC MANE Select	ENSP00000354394.4:n.786-585_786-584insTC
ENST00000415035.2:c.786-585_786-584insTC	ENSP00000388240.2:n.786-585_786-584insTC
ENST00000423282.2:c.128+14072_128+14073insTC	ENSP00000388772.2:n.128+14072_128+14073insTC
ENST00000424722.6:c.696-585_696-584insTC	ENSP00000402548.2:n.696-585_696-584insTC
ENST00000452281.6:c.*112-585_*112-584insTC	ENSP00000394512.1:n.*112-585_*112-584insTC
ENST00000540176.6:c.786-585_786-584insTC	ENSP00000438703.2:n.786-585_786-584insTC
ENST00000673638.1:n.1085-585_1085-584insTC
ENST00000673734.1:c.786-596_786-595insTC	ENSP00000501040.1:n.786-596_786-595insTC
ENST00000673777.1:c.786-585_786-584insTC	ENSP00000500982.1:n.786-585_786-584insTC
ENST00000673816.1:c.786-585_786-584insTC	ENSP00000501127.1:n.786-585_786-584insTC
ENST00000673841.1:c.786-585_786-584insTC	ENSP00000501225.1:n.786-585_786-584insTC
ENST00000673847.1:c.786-585_786-584insTC	ENSP00000501185.1:n.786-585_786-584insTC
ENST00000673858.1:c.*112-585_*112-584insTC	ENSP00000501196.1:n.*112-585_*112-584insTC
ENST00000673859.1:n.1085-585_1085-584insTC
ENST00000673863.1:c.39-12046_39-12045insTC	ENSP00000501286.1:n.39-12046_39-12045insTC
ENST00000673885.1:c.786-585_786-584insTC	ENSP00000501159.1:n.786-585_786-584insTC
ENST00000673942.1:c.786-585_786-584insTC	ENSP00000501145.1:n.786-585_786-584insTC
ENST00000673952.1:c.786-585_786-584insTC	ENSP00000501115.1:n.786-585_786-584insTC
ENST00000674028.1:n.310+17717_310+17718insTC
ENST00000674080.1:c.786-585_786-584insTC	ENSP00000501164.1:n.786-585_786-584insTC
ENST00000674081.1:c.786-585_786-584insTC	ENSP00000501289.1:n.786-585_786-584insTC
ENST00000674153.1:c.786-585_786-584insTC	ENSP00000501120.1:n.786-585_786-584insTC
ENST00000361099.7:c.786-585_786-584insTC	ENSP00000354394.3:n.786-585_786-584insTC
ENST00000392322.7:c.786-585_786-584insTC	ENSP00000376136.3:n.786-585_786-584insTC
ENST00000392323.6:c.792-585_792-584insTC	ENSP00000376137.2:n.792-585_792-584insTC
ENST00000409465.5:c.786-585_786-584insTC	ENSP00000386244.1:n.786-585_786-584insTC
ENST00000452281.5:c.*112-585_*112-584insTC	ENSP00000394512.1:n.*112-585_*112-584insTC
ENST00000540176.5:c.*112-585_*112-584insTC	ENSP00000438703.1:n.*112-585_*112-584insTC
NM_007315.3:c.786-585_786-584insTC , LRG_111t1:c.786-585_786-584insTC	NP_009330.1:n.786-585_786-584insTC
NM_139266.2:c.786-585_786-584insTC	NP_644671.1:n.786-585_786-584insTC
XM_006712718.1:c.786-585_786-584insTC	XP_006712781.1:n.786-585_786-584insTC
XM_017004783.2:c.792-585_792-584insTC	XP_016860272.1:n.792-585_792-584insTC
XR_001738914.2:n.1179-585_1179-584insTC
XR_001738915.2:n.1121-585_1121-584insTC
NM_007315.4:c.786-585_786-584insTC MANE Select	NP_009330.1:n.786-585_786-584insTC
NM_001384880.1:c.786-585_786-584insTC	NP_001371809.1:n.786-585_786-584insTC
NM_001384881.1:c.792-585_792-584insTC	NP_001371810.1:n.792-585_792-584insTC
NM_001384882.1:c.786-585_786-584insTC	NP_001371811.1:n.786-585_786-584insTC
NM_001384883.1:c.687-585_687-584insTC	NP_001371812.1:n.687-585_687-584insTC
NM_001384884.1:c.792-585_792-584insTC	NP_001371813.1:n.792-585_792-584insTC
NM_001384885.1:c.785+2052_785+2053insTC	NP_001371814.1:n.785+2052_785+2053insTC
NM_001384886.1:c.786-585_786-584insTC	NP_001371815.1:n.786-585_786-584insTC
NM_001384887.1:c.786-585_786-584insTC	NP_001371816.1:n.786-585_786-584insTC
NM_001384888.1:c.786-585_786-584insTC	NP_001371817.1:n.786-585_786-584insTC
NM_001384889.1:c.786-585_786-584insTC	NP_001371818.1:n.786-585_786-584insTC
NM_001384890.1:c.696-585_696-584insTC	NP_001371819.1:n.696-585_696-584insTC
NM_001384891.1:c.822-585_822-584insTC	NP_001371820.1:n.822-585_822-584insTC
NM_139266.3:c.786-585_786-584insTC	NP_644671.1:n.786-585_786-584insTC