Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359814_8359817delinsTCTC , CM000663.2:g.8359814_8359817delinsTCTC	GRCh38
NC_000001.10:g.8419874_8419877delinsTCTC , CM000663.1:g.8419874_8419877delinsTCTC	GRCh37
NC_000001.9:g.8342461_8342464delinsTCTC	NCBI36
NG_047035.1:g.462875_462878delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1903_1906delinsGAGA	ENSP00000515651.1:p.Glu635=
ENST00000400908.7:c.3565_3568delinsGAGA MANE Select	ENSP00000383700.2:p.Glu1189=
ENST00000337907.7:c.3565_3568delinsGAGA	ENSP00000338629.3:p.Glu1189=
ENST00000377464.5:c.2761_2764delinsGAGA	ENSP00000366684.1:p.Glu921=
ENST00000400907.6:c.1541-4218_1541-4215delinsGAGA	ENSP00000383699.2:n.1541-4218_1541-4215delinsGAGA
ENST00000400908.6:c.3565_3568delinsGAGA	ENSP00000383700.2:p.Glu1189=
ENST00000476556.5:c.1903_1906delinsGAGA	ENSP00000422246.1:p.Glu635=
ENST00000505225.1:c.307+1643_307+1646delinsGAGA	ENSP00000423451.1:n.307+1643_307+1646delinsGAGA
NM_001042681.1:c.3565_3568delinsGAGA	NP_001036146.1:p.Glu1189=
NM_001042682.1:c.1903_1906delinsGAGA	NP_001036147.1:p.Glu635=
NM_012102.3:c.3565_3568delinsGAGA	NP_036234.3:p.Glu1189=
XM_005263464.1:c.3565_3568delinsGAGA	XP_005263521.1:p.Glu1189=
XM_005263466.1:c.2761_2764delinsGAGA	XP_005263523.1:p.Glu921=
XM_006710653.1:c.3565_3568delinsGAGA	XP_006710716.1:p.Glu1189=
XM_011541510.1:c.3439_3442delinsGAGA	XP_011539812.1:p.Glu1147=
XM_011541511.1:c.3395+295_3395+298delinsGAGA	XP_011539813.1:n.3395+295_3395+298delinsGAGA
XM_005263464.2:c.3565_3568delinsGAGA	XP_005263521.1:p.Glu1189=
XM_011541510.2:c.3439_3442delinsGAGA	XP_011539812.1:p.Glu1147=
XM_011541511.2:c.3395+295_3395+298delinsGAGA	XP_011539813.1:n.3395+295_3395+298delinsGAGA
XM_017001358.1:c.3565_3568delinsGAGA	XP_016856847.1:p.Glu1189=
XM_017001359.1:c.3565_3568delinsGAGA	XP_016856848.1:p.Glu1189=
NM_001042681.2:c.3565_3568delinsGAGA MANE Select	NP_001036146.1:p.Glu1189=
NM_001042682.2:c.1903_1906delinsGAGA	NP_001036147.1:p.Glu635=
NM_012102.4:c.3565_3568delinsGAGA	NP_036234.3:p.Glu1189=