Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113798_11113807delinsTGGAGGGAGC , CM000681.2:g.11113798_11113807delinsTGGAGGGAGC	GRCh38
NC_000019.9:g.11224474_11224483delinsTGGAGGGAGC , CM000681.1:g.11224474_11224483delinsTGGAGGGAGC	GRCh37
NC_000019.8:g.11085474_11085483delinsTGGAGGGAGC	NCBI36
NG_009060.1:g.29418_29427delinsTGGAGGGAGC , LRG_274:g.29418_29427delinsTGGAGGGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1844+36_1844+45delinsTGGAGGGAGC	ENSP00000252444.6:n.1844+36_1844+45delinsTGGAGGGAGC
ENST00000559340.2:c.1586+36_1586+45delinsTGGAGGGAGC	ENSP00000453696.2:n.1586+36_1586+45delinsTGGAGGGAGC
ENST00000560467.2:c.1466+36_1466+45delinsTGGAGGGAGC	ENSP00000453513.2:n.1466+36_1466+45delinsTGGAGGGAGC
ENST00000558518.6:c.1586+36_1586+45delinsTGGAGGGAGC MANE Select	ENSP00000454071.1:n.1586+36_1586+45delinsTGGAGGGAGC
ENST00000252444.9:c.1840+36_1840+45delinsTGGAGGGAGC
ENST00000455727.6:c.1082+36_1082+45delinsTGGAGGGAGC	ENSP00000397829.2:n.1082+36_1082+45delinsTGGAGGGAGC
ENST00000535915.5:c.1463+36_1463+45delinsTGGAGGGAGC	ENSP00000440520.1:n.1463+36_1463+45delinsTGGAGGGAGC
ENST00000545707.5:c.1205+36_1205+45delinsTGGAGGGAGC	ENSP00000437639.1:n.1205+36_1205+45delinsTGGAGGGAGC
ENST00000557933.5:c.1586+36_1586+45delinsTGGAGGGAGC	ENSP00000453557.1:n.1586+36_1586+45delinsTGGAGGGAGC
ENST00000558013.5:c.1586+36_1586+45delinsTGGAGGGAGC	ENSP00000453346.1:n.1586+36_1586+45delinsTGGAGGGAGC
ENST00000558518.5:c.1586+36_1586+45delinsTGGAGGGAGC	ENSP00000454071.1:n.1586+36_1586+45delinsTGGAGGGAGC
ENST00000559340.1:c.307+36_307+45delinsTGGAGGGAGC
NM_000527.4:c.1586+36_1586+45delinsTGGAGGGAGC , LRG_274t1:c.1586+36_1586+45delinsTGGAGGGAGC	NP_000518.1:n.1586+36_1586+45delinsTGGAGGGAGC
NM_001195798.1:c.1586+36_1586+45delinsTGGAGGGAGC	NP_001182727.1:n.1586+36_1586+45delinsTGGAGGGAGC
NM_001195799.1:c.1463+36_1463+45delinsTGGAGGGAGC	NP_001182728.1:n.1463+36_1463+45delinsTGGAGGGAGC
NM_001195800.1:c.1082+36_1082+45delinsTGGAGGGAGC	NP_001182729.1:n.1082+36_1082+45delinsTGGAGGGAGC
NM_001195803.1:c.1205+36_1205+45delinsTGGAGGGAGC	NP_001182732.1:n.1205+36_1205+45delinsTGGAGGGAGC
XM_011528010.1:c.1586+36_1586+45delinsTGGAGGGAGC	XP_011526312.1:n.1586+36_1586+45delinsTGGAGGGAGC
XM_011528011.1:c.1205+36_1205+45delinsTGGAGGGAGC	XP_011526313.1:n.1205+36_1205+45delinsTGGAGGGAGC
XR_244074.2:n.1736+36_1736+45delinsTGGAGGGAGC
XM_011528010.2:c.1586+36_1586+45delinsTGGAGGGAGC	XP_011526312.1:n.1586+36_1586+45delinsTGGAGGGAGC
XR_001753685.2:n.1703+36_1703+45delinsTGGAGGGAGC
XR_001753686.2:n.1703+36_1703+45delinsTGGAGGGAGC
NM_000527.5:c.1586+36_1586+45delinsTGGAGGGAGC MANE Select	NP_000518.1:n.1586+36_1586+45delinsTGGAGGGAGC
NM_001195798.2:c.1586+36_1586+45delinsTGGAGGGAGC	NP_001182727.1:n.1586+36_1586+45delinsTGGAGGGAGC
NM_001195799.2:c.1463+36_1463+45delinsTGGAGGGAGC	NP_001182728.1:n.1463+36_1463+45delinsTGGAGGGAGC
NM_001195800.2:c.1082+36_1082+45delinsTGGAGGGAGC	NP_001182729.1:n.1082+36_1082+45delinsTGGAGGGAGC
NM_001195803.2:c.1205+36_1205+45delinsTGGAGGGAGC	NP_001182732.1:n.1205+36_1205+45delinsTGGAGGGAGC