Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105562_11105568delinsGCCCCGA , CM000681.2:g.11105562_11105568delinsGCCCCGA	GRCh38
NC_000019.9:g.11216238_11216244delinsGCCCCGA , CM000681.1:g.11216238_11216244delinsGCCCCGA	GRCh37
NC_000019.8:g.11077238_11077244delinsGCCCCGA	NCBI36
NG_009060.1:g.21182_21188delinsGCCCCGA , LRG_274:g.21182_21188delinsGCCCCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.914_920delinsGCCCCGA	ENSP00000252444.6:p.Gly305=
ENST00000559340.2:c.656_662delinsGCCCCGA	ENSP00000453696.2:p.Gly219=
ENST00000560467.2:c.656_662delinsGCCCCGA	ENSP00000453513.2:p.Gly219=
ENST00000558518.6:c.656_662delinsGCCCCGA MANE Select	ENSP00000454071.1:p.Gly219=
ENST00000252444.9:c.910_916delinsGCCCCGA
ENST00000455727.6:c.314-1830_314-1824delinsGCCCCGA	ENSP00000397829.2:n.314-1830_314-1824delinsGCCCCGA
ENST00000535915.5:c.533_539delinsGCCCCGA	ENSP00000440520.1:p.Gly178=
ENST00000545707.5:c.314-1003_314-997delinsGCCCCGA	ENSP00000437639.1:n.314-1003_314-997delinsGCCCCGA
ENST00000557933.5:c.656_662delinsGCCCCGA	ENSP00000453557.1:p.Gly219=
ENST00000558013.5:c.656_662delinsGCCCCGA	ENSP00000453346.1:p.Gly219=
ENST00000558518.5:c.656_662delinsGCCCCGA	ENSP00000454071.1:p.Gly219=
ENST00000560467.1:c.256_262delinsGCCCCGA
NM_000527.4:c.656_662delinsGCCCCGA , LRG_274t1:c.656_662delinsGCCCCGA	NP_000518.1:p.Gly219=
NM_001195798.1:c.656_662delinsGCCCCGA	NP_001182727.1:p.Gly219=
NM_001195799.1:c.533_539delinsGCCCCGA	NP_001182728.1:p.Gly178=
NM_001195800.1:c.314-1830_314-1824delinsGCCCCGA	NP_001182729.1:n.314-1830_314-1824delinsGCCCCGA
NM_001195803.1:c.314-1003_314-997delinsGCCCCGA	NP_001182732.1:n.314-1003_314-997delinsGCCCCGA
XM_011528010.1:c.656_662delinsGCCCCGA	XP_011526312.1:p.Gly219=
XM_011528011.1:c.314-1003_314-997delinsGCCCCGA	XP_011526313.1:n.314-1003_314-997delinsGCCCCGA
XR_244074.2:n.806_812delinsGCCCCGA
XM_011528010.2:c.656_662delinsGCCCCGA	XP_011526312.1:p.Gly219=
XR_001753685.2:n.773_779delinsGCCCCGA
XR_001753686.2:n.773_779delinsGCCCCGA
NM_000527.5:c.656_662delinsGCCCCGA MANE Select	NP_000518.1:p.Gly219=
NM_001195798.2:c.656_662delinsGCCCCGA	NP_001182727.1:p.Gly219=
NM_001195799.2:c.533_539delinsGCCCCGA	NP_001182728.1:p.Gly178=
NM_001195800.2:c.314-1830_314-1824delinsGCCCCGA	NP_001182729.1:n.314-1830_314-1824delinsGCCCCGA
NM_001195803.2:c.314-1003_314-997delinsGCCCCGA	NP_001182732.1:n.314-1003_314-997delinsGCCCCGA