Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105259_11105262delinsATGG , CM000681.2:g.11105259_11105262delinsATGG	GRCh38
NC_000019.9:g.11215935_11215938delinsATGG , CM000681.1:g.11215935_11215938delinsATGG	GRCh37
NC_000019.8:g.11076935_11076938delinsATGG	NCBI36
NG_009060.1:g.20879_20882delinsATGG , LRG_274:g.20879_20882delinsATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.611_614delinsATGG	ENSP00000252444.6:p.Asp204=
ENST00000559340.2:c.353_356delinsATGG	ENSP00000453696.2:p.Asp118=
ENST00000560467.2:c.353_356delinsATGG	ENSP00000453513.2:p.Asp118=
ENST00000558518.6:c.353_356delinsATGG MANE Select	ENSP00000454071.1:p.Asp118=
ENST00000252444.9:c.607_610delinsATGG
ENST00000455727.6:c.314-2133_314-2130delinsATGG	ENSP00000397829.2:n.314-2133_314-2130delinsATGG
ENST00000535915.5:c.230_233delinsATGG	ENSP00000440520.1:p.Asp77=
ENST00000545707.5:c.314-1306_314-1303delinsATGG	ENSP00000437639.1:n.314-1306_314-1303delinsATGG
ENST00000557933.5:c.353_356delinsATGG	ENSP00000453557.1:p.Asp118=
ENST00000558013.5:c.353_356delinsATGG	ENSP00000453346.1:p.Asp118=
ENST00000558518.5:c.353_356delinsATGG	ENSP00000454071.1:p.Asp118=
NM_000527.4:c.353_356delinsATGG , LRG_274t1:c.353_356delinsATGG	NP_000518.1:p.Asp118=
NM_001195798.1:c.353_356delinsATGG	NP_001182727.1:p.Asp118=
NM_001195799.1:c.230_233delinsATGG	NP_001182728.1:p.Asp77=
NM_001195800.1:c.314-2133_314-2130delinsATGG	NP_001182729.1:n.314-2133_314-2130delinsATGG
NM_001195803.1:c.314-1306_314-1303delinsATGG	NP_001182732.1:n.314-1306_314-1303delinsATGG
XM_011528010.1:c.353_356delinsATGG	XP_011526312.1:p.Asp118=
XM_011528011.1:c.314-1306_314-1303delinsATGG	XP_011526313.1:n.314-1306_314-1303delinsATGG
XR_244074.2:n.503_506delinsATGG
XM_011528010.2:c.353_356delinsATGG	XP_011526312.1:p.Asp118=
XR_001753685.2:n.470_473delinsATGG
XR_001753686.2:n.470_473delinsATGG
NM_000527.5:c.353_356delinsATGG MANE Select	NP_000518.1:p.Asp118=
NM_001195798.2:c.353_356delinsATGG	NP_001182727.1:p.Asp118=
NM_001195799.2:c.230_233delinsATGG	NP_001182728.1:p.Asp77=
NM_001195800.2:c.314-2133_314-2130delinsATGG	NP_001182729.1:n.314-2133_314-2130delinsATGG
NM_001195803.2:c.314-1306_314-1303delinsATGG	NP_001182732.1:n.314-1306_314-1303delinsATGG