Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102786_11102787insTGAC , CM000681.2:g.11102786_11102787insTGAC	GRCh38
NC_000019.9:g.11213462_11213463insTGAC , CM000681.1:g.11213462_11213463insTGAC	GRCh37
NC_000019.8:g.11074462_11074463insTGAC	NCBI36
NG_009060.1:g.18406_18407insTGAC , LRG_274:g.18406_18407insTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.571_571+1insTGAC	ENSP00000252444.6:p.Pro191LeufsTer26
ENST00000559340.2:c.313_313+1insTGAC	ENSP00000453696.2:p.Pro105LeufsTer26
ENST00000560467.2:c.313_313+1insTGAC	ENSP00000453513.2:p.Pro105LeufsTer26
ENST00000558518.6:c.313_313+1insTGAC MANE Select	ENSP00000454071.1:p.Pro105LeufsTer26
ENST00000252444.9:c.567_567+1insTGAC
ENST00000455727.6:c.313_313+1insTGAC	ENSP00000397829.2:p.Leu107AspfsTer27
ENST00000535915.5:c.191-2434_191-2433insTGAC	ENSP00000440520.1:n.191-2434_191-2433insTGAC
ENST00000545707.5:c.313_313+1insTGAC	ENSP00000437639.1:p.Pro105LeufsTer9
ENST00000557933.5:c.313_313+1insTGAC	ENSP00000453557.1:p.Pro105LeufsTer26
ENST00000557958.1:n.399_400insTGAC
ENST00000558013.5:c.313_313+1insTGAC	ENSP00000453346.1:p.Pro105LeufsTer26
ENST00000558518.5:c.313_313+1insTGAC	ENSP00000454071.1:p.Pro105LeufsTer26
NM_000527.4:c.313_313+1insTGAC , LRG_274t1:c.313_313+1insTGAC	NP_000518.1:p.Pro105LeufsTer26
NM_001195798.1:c.313_313+1insTGAC	NP_001182727.1:p.Pro105LeufsTer26
NM_001195799.1:c.191-2434_191-2433insTGAC	NP_001182728.1:n.191-2434_191-2433insTGAC
NM_001195800.1:c.313_313+1insTGAC	NP_001182729.1:p.Leu107AspfsTer27
NM_001195803.1:c.313_313+1insTGAC	NP_001182732.1:p.Pro105LeufsTer9
XM_011528010.1:c.313_313+1insTGAC	XP_011526312.1:p.Pro105LeufsTer26
XM_011528011.1:c.313_313+1insTGAC	XP_011526313.1:p.Pro105LeufsTer9
XR_244074.2:n.463_463+1insTGAC
XM_011528010.2:c.313_313+1insTGAC	XP_011526312.1:p.Pro105LeufsTer26
XR_001753685.2:n.430_430+1insTGAC
XR_001753686.2:n.430_430+1insTGAC
NM_000527.5:c.313_313+1insTGAC MANE Select	NP_000518.1:p.Pro105LeufsTer26
NM_001195798.2:c.313_313+1insTGAC	NP_001182727.1:p.Pro105LeufsTer26
NM_001195799.2:c.191-2434_191-2433insTGAC	NP_001182728.1:n.191-2434_191-2433insTGAC
NM_001195800.2:c.313_313+1insTGAC	NP_001182729.1:p.Leu107AspfsTer27
NM_001195803.2:c.313_313+1insTGAC	NP_001182732.1:p.Pro105LeufsTer9