Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110679_11110680delinsGC , CM000681.2:g.11110679_11110680delinsGC	GRCh38
NC_000019.9:g.11221355_11221356delinsGC , CM000681.1:g.11221355_11221356delinsGC	GRCh37
NC_000019.8:g.11082355_11082356delinsGC	NCBI36
NG_009060.1:g.26299_26300delinsGC , LRG_274:g.26299_26300delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1226_1227delinsGC	ENSP00000252444.6:p.Gly409=
ENST00000559340.2:c.968_969delinsGC	ENSP00000453696.2:p.Gly323=
ENST00000560467.2:c.941-835_941-834delinsGC	ENSP00000453513.2:n.941-835_941-834delinsGC
ENST00000558518.6:c.968_969delinsGC MANE Select	ENSP00000454071.1:p.Gly323=
ENST00000252444.9:c.1222_1223delinsGC
ENST00000455727.6:c.464_465delinsGC	ENSP00000397829.2:p.Gly155=
ENST00000535915.5:c.845_846delinsGC	ENSP00000440520.1:p.Gly282=
ENST00000545707.5:c.587_588delinsGC	ENSP00000437639.1:p.Gly196=
ENST00000557933.5:c.968_969delinsGC	ENSP00000453557.1:p.Gly323=
ENST00000558013.5:c.968_969delinsGC	ENSP00000453346.1:p.Gly323=
ENST00000558518.5:c.968_969delinsGC	ENSP00000454071.1:p.Gly323=
ENST00000560467.1:c.541-835_541-834delinsGC
NM_000527.4:c.968_969delinsGC , LRG_274t1:c.968_969delinsGC	NP_000518.1:p.Gly323=
NM_001195798.1:c.968_969delinsGC	NP_001182727.1:p.Gly323=
NM_001195799.1:c.845_846delinsGC	NP_001182728.1:p.Gly282=
NM_001195800.1:c.464_465delinsGC	NP_001182729.1:p.Gly155=
NM_001195803.1:c.587_588delinsGC	NP_001182732.1:p.Gly196=
XM_011528010.1:c.968_969delinsGC	XP_011526312.1:p.Gly323=
XM_011528011.1:c.587_588delinsGC	XP_011526313.1:p.Gly196=
XR_244074.2:n.1118_1119delinsGC
XM_011528010.2:c.968_969delinsGC	XP_011526312.1:p.Gly323=
XR_001753685.2:n.1085_1086delinsGC
XR_001753686.2:n.1085_1086delinsGC
NM_000527.5:c.968_969delinsGC MANE Select	NP_000518.1:p.Gly323=
NM_001195798.2:c.968_969delinsGC	NP_001182727.1:p.Gly323=
NM_001195799.2:c.845_846delinsGC	NP_001182728.1:p.Gly282=
NM_001195800.2:c.464_465delinsGC	NP_001182729.1:p.Gly155=
NM_001195803.2:c.587_588delinsGC	NP_001182732.1:p.Gly196=