Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68166623_68166624delinsTC , CM000672.2:g.68166623_68166624delinsTC	GRCh38
NC_000010.10:g.69926380_69926381delinsTC , CM000672.1:g.69926380_69926381delinsTC	GRCh37
NC_000010.9:g.69596386_69596387delinsTC	NCBI36
NG_032118.1:g.65507_65508delinsTC , LRG_410:g.65507_65508delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.1105_1106delinsTC	ENSP00000346369.2:p.Ser369=
ENST00000373675.4:c.1930_1931delinsTC	ENSP00000362779.4:p.Ser644=
ENST00000540630.6:c.1984_1985delinsTC	ENSP00000441668.3:p.Ser662=
ENST00000613327.5:c.1930_1931delinsTC	ENSP00000480757.2:p.Ser644=
ENST00000687572.1:c.808_809delinsTC	ENSP00000510427.1:p.Ser270=
ENST00000688812.1:c.1906_1907delinsTC	ENSP00000510658.1:p.Ser636=
ENST00000690544.1:c.1201_1202delinsTC	ENSP00000508989.1:n.1201_1202delinsTC
ENST00000358913.10:c.1930_1931delinsTC MANE Select	ENSP00000351790.5:p.Ser644=
ENST00000354393.6:c.1105_1106delinsTC	ENSP00000346369.2:p.Ser369=
ENST00000358913.9:c.1930_1931delinsTC	ENSP00000351790.5:p.Ser644=
ENST00000540630.5:c.1930_1931delinsTC	ENSP00000441668.2:p.Ser644=
ENST00000613327.4:c.1048_1049delinsTC	ENSP00000480757.1:p.Ser350=
NM_001256267.1:c.1930_1931delinsTC	NP_001243196.1:p.Ser644=
NM_001256268.1:c.1048_1049delinsTC	NP_001243197.1:p.Ser350=
NM_032578.3:c.1930_1931delinsTC , LRG_410t1:c.1930_1931delinsTC	NP_115967.2:p.Ser644=
NR_045662.3:n.1357_1358delinsTC
NR_045663.3:n.2198_2199delinsTC
XM_006718043.2:c.1984_1985delinsTC	XP_006718106.1:p.Ser662=
XM_011540292.1:c.1960_1961delinsTC	XP_011538594.1:p.Ser654=
XM_017016833.1:c.2008_2009delinsTC	XP_016872322.1:p.Ser670=
XM_017016834.2:c.1930_1931delinsTC	XP_016872323.1:p.Ser644=
XM_024448236.1:c.808_809delinsTC	XP_024304004.1:p.Ser270=
NR_045662.4:n.1467_1468delinsTC
NR_045663.4:n.2143_2144delinsTC
NM_001256267.2:c.1930_1931delinsTC	NP_001243196.1:p.Ser644=
NM_001256268.2:c.1048_1049delinsTC	NP_001243197.1:p.Ser350=
NM_032578.4:c.1930_1931delinsTC MANE Select	NP_115967.2:p.Ser644=