Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102091_11102092insGGGGG , CM000681.2:g.11102091_11102092insGGGGG	GRCh38
NC_000019.9:g.11212767_11212768insGGGGG , CM000681.1:g.11212767_11212768insGGGGG	GRCh37
NC_000019.8:g.11073767_11073768insGGGGG	NCBI36
NG_009060.1:g.17711_17712insGGGGG , LRG_274:g.17711_17712insGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-573_449-572insGGGGG	ENSP00000252444.6:n.449-573_449-572insGGGGG
ENST00000559340.2:c.191-573_191-572insGGGGG	ENSP00000453696.2:n.191-573_191-572insGGGGG
ENST00000560467.2:c.191-573_191-572insGGGGG	ENSP00000453513.2:n.191-573_191-572insGGGGG
ENST00000558518.6:c.191-573_191-572insGGGGG MANE Select	ENSP00000454071.1:n.191-573_191-572insGGGGG
ENST00000252444.9:c.445-573_445-572insGGGGG
ENST00000455727.6:c.191-573_191-572insGGGGG	ENSP00000397829.2:n.191-573_191-572insGGGGG
ENST00000535915.5:c.190+1746_190+1747insGGGGG	ENSP00000440520.1:n.190+1746_190+1747insGGGGG
ENST00000545707.5:c.191-573_191-572insGGGGG	ENSP00000437639.1:n.191-573_191-572insGGGGG
ENST00000557933.5:c.191-573_191-572insGGGGG	ENSP00000453557.1:n.191-573_191-572insGGGGG
ENST00000557958.1:n.277-573_277-572insGGGGG
ENST00000558013.5:c.191-573_191-572insGGGGG	ENSP00000453346.1:n.191-573_191-572insGGGGG
ENST00000558518.5:c.191-573_191-572insGGGGG	ENSP00000454071.1:n.191-573_191-572insGGGGG
NM_000527.4:c.191-573_191-572insGGGGG , LRG_274t1:c.191-573_191-572insGGGGG	NP_000518.1:n.191-573_191-572insGGGGG
NM_001195798.1:c.191-573_191-572insGGGGG	NP_001182727.1:n.191-573_191-572insGGGGG
NM_001195799.1:c.190+1746_190+1747insGGGGG	NP_001182728.1:n.190+1746_190+1747insGGGGG
NM_001195800.1:c.191-573_191-572insGGGGG	NP_001182729.1:n.191-573_191-572insGGGGG
NM_001195803.1:c.191-573_191-572insGGGGG	NP_001182732.1:n.191-573_191-572insGGGGG
XM_011528010.1:c.191-573_191-572insGGGGG	XP_011526312.1:n.191-573_191-572insGGGGG
XM_011528011.1:c.191-573_191-572insGGGGG	XP_011526313.1:n.191-573_191-572insGGGGG
XR_244074.2:n.341-573_341-572insGGGGG
XM_011528010.2:c.191-573_191-572insGGGGG	XP_011526312.1:n.191-573_191-572insGGGGG
XR_001753685.2:n.308-573_308-572insGGGGG
XR_001753686.2:n.308-573_308-572insGGGGG
NM_000527.5:c.191-573_191-572insGGGGG MANE Select	NP_000518.1:n.191-573_191-572insGGGGG
NM_001195798.2:c.191-573_191-572insGGGGG	NP_001182727.1:n.191-573_191-572insGGGGG
NM_001195799.2:c.190+1746_190+1747insGGGGG	NP_001182728.1:n.190+1746_190+1747insGGGGG
NM_001195800.2:c.191-573_191-572insGGGGG	NP_001182729.1:n.191-573_191-572insGGGGG
NM_001195803.2:c.191-573_191-572insGGGGG	NP_001182732.1:n.191-573_191-572insGGGGG