Canonical Allele Identifier: CA2695235339

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353222_101353223insTTAT , CM000685.2:g.101353222_101353223insTTAT	GRCh38
NC_000023.10:g.100608210_100608211insTTAT , CM000685.1:g.100608210_100608211insTTAT	GRCh37
NC_000023.9:g.100494866_100494867insTTAT	NCBI36
NG_009616.1:g.38005_38006insAATA , LRG_128:g.38005_38006insAATA
NG_011734.1:g.750_751insAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3399_3400insAATA
ENST00000488970.2:n.4038_4039insAATA
ENST00000695614.1:c.1882_1883insAATA	ENSP00000512053.1:p.Thr628LysfsTer10
ENST00000695615.1:c.1882_1883insAATA	ENSP00000512054.1:p.Thr628LysfsTer10
ENST00000695616.1:c.*1727_*1728insAATA	ENSP00000512055.1:n.*1727_*1728insAATA
ENST00000695617.1:c.1879_1880insAATA	ENSP00000512056.1:p.Thr627LysfsTer10
ENST00000695618.1:c.*1631_*1632insAATA	ENSP00000512058.1:n.*1631_*1632insAATA
ENST00000695619.1:c.*1592_*1593insAATA	ENSP00000512059.1:n.*1592_*1593insAATA
ENST00000695620.1:c.*1808_*1809insAATA	ENSP00000512060.1:n.*1808_*1809insAATA
ENST00000695621.1:c.*307_*308insAATA	ENSP00000512061.1:n.*307_*308insAATA
ENST00000695622.1:c.1819_1820insAATA	ENSP00000512062.1:p.Thr607LysfsTer10
ENST00000695623.1:c.1876_1877insAATA	ENSP00000512063.1:p.Thr626LysfsTer10
ENST00000695624.1:n.1187_1188insAATA
ENST00000695625.1:c.1875+7_1875+8insAATA	ENSP00000512064.1:n.1875+7_1875+8insAATA
ENST00000695626.1:c.637_638insAATA	ENSP00000512065.1:n.637_638insAATA
ENST00000695627.1:c.830_831insAATA	ENSP00000512066.1:n.830_831insAATA
ENST00000695628.1:c.441_442insAATA	ENSP00000512067.1:n.441_442insAATA
ENST00000695629.1:c.322_323insAATA	ENSP00000512068.1:p.Thr108LysfsTer10
ENST00000695630.1:c.609_610insAATA
ENST00000695631.1:c.143_144insAATA
ENST00000703407.1:c.1354_1355insAATA	ENSP00000512057.1:p.Thr452LysfsTer10
ENST00000308731.8:c.1882_1883insAATA MANE Select	ENSP00000308176.8:p.Thr628LysfsTer10
ENST00000308731.7:c.1882_1883insAATA	ENSP00000308176.7:p.Thr628LysfsTer10
ENST00000372880.5:c.1354_1355insAATA	ENSP00000361971.1:p.Thr452LysfsTer10
ENST00000470069.1:n.247_248insAATA
ENST00000618050.4:c.1881_1882insAATA	ENSP00000479125.1:n.1881_1882insAATA
ENST00000621635.4:c.1984_1985insAATA	ENSP00000483570.1:p.Thr662LysfsTer10
NM_000061.2:c.1882_1883insAATA , LRG_128t1:c.1882_1883insAATA	NP_000052.1:p.Thr628LysfsTer10
NM_001287344.1:c.1984_1985insAATA	NP_001274273.1:p.Thr662LysfsTer10
NM_001287345.1:c.1354_1355insAATA	NP_001274274.1:p.Thr452LysfsTer10
NM_000061.3:c.1882_1883insAATA MANE Select	NP_000052.1:p.Thr628LysfsTer10
NM_001287344.2:c.1984_1985insAATA	NP_001274273.1:p.Thr662LysfsTer10
NM_001287345.2:c.1354_1355insAATA	NP_001274274.1:p.Thr452LysfsTer10