Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107469_11107470delinsGC , CM000681.2:g.11107469_11107470delinsGC	GRCh38
NC_000019.9:g.11218145_11218146delinsGC , CM000681.1:g.11218145_11218146delinsGC	GRCh37
NC_000019.8:g.11079145_11079146delinsGC	NCBI36
NG_009060.1:g.23089_23090delinsGC , LRG_274:g.23089_23090delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1153_1154delinsGC	ENSP00000252444.6:p.Ala385=
ENST00000559340.2:c.895_896delinsGC	ENSP00000453696.2:p.Ala299=
ENST00000560467.2:c.895_896delinsGC	ENSP00000453513.2:p.Ala299=
ENST00000558518.6:c.895_896delinsGC MANE Select	ENSP00000454071.1:p.Ala299=
ENST00000252444.9:c.1149_1150delinsGC
ENST00000455727.6:c.391_392delinsGC	ENSP00000397829.2:p.Ala131=
ENST00000535915.5:c.772_773delinsGC	ENSP00000440520.1:p.Ala258=
ENST00000545707.5:c.514_515delinsGC	ENSP00000437639.1:p.Ala172=
ENST00000557933.5:c.895_896delinsGC	ENSP00000453557.1:p.Ala299=
ENST00000558013.5:c.895_896delinsGC	ENSP00000453346.1:p.Ala299=
ENST00000558518.5:c.895_896delinsGC	ENSP00000454071.1:p.Ala299=
ENST00000558528.1:n.410_411delinsGC
ENST00000560467.1:c.495_496delinsGC
NM_000527.4:c.895_896delinsGC , LRG_274t1:c.895_896delinsGC	NP_000518.1:p.Ala299=
NM_001195798.1:c.895_896delinsGC	NP_001182727.1:p.Ala299=
NM_001195799.1:c.772_773delinsGC	NP_001182728.1:p.Ala258=
NM_001195800.1:c.391_392delinsGC	NP_001182729.1:p.Ala131=
NM_001195803.1:c.514_515delinsGC	NP_001182732.1:p.Ala172=
XM_011528010.1:c.895_896delinsGC	XP_011526312.1:p.Ala299=
XM_011528011.1:c.514_515delinsGC	XP_011526313.1:p.Ala172=
XR_244074.2:n.1045_1046delinsGC
XM_011528010.2:c.895_896delinsGC	XP_011526312.1:p.Ala299=
XR_001753685.2:n.1012_1013delinsGC
XR_001753686.2:n.1012_1013delinsGC
NM_000527.5:c.895_896delinsGC MANE Select	NP_000518.1:p.Ala299=
NM_001195798.2:c.895_896delinsGC	NP_001182727.1:p.Ala299=
NM_001195799.2:c.772_773delinsGC	NP_001182728.1:p.Ala258=
NM_001195800.2:c.391_392delinsGC	NP_001182729.1:p.Ala131=
NM_001195803.2:c.514_515delinsGC	NP_001182732.1:p.Ala172=