Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123615_11123616insGTGGCTG , CM000681.2:g.11123615_11123616insGTGGCTG	GRCh38
NC_000019.9:g.11234291_11234292insGTGGCTG , CM000681.1:g.11234291_11234292insGTGGCTG	GRCh37
NC_000019.8:g.11095291_11095292insGTGGCTG	NCBI36
NG_009060.1:g.39235_39236insGTGGCTG , LRG_274:g.39235_39236insGTGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+271_2569+272insGTGGCTG	ENSP00000252444.6:n.2569+271_2569+272insGTGGCTG
ENST00000559340.2:c.380+271_380+272insGTGGCTG	ENSP00000453696.2:n.380+271_380+272insGTGGCTG
ENST00000560467.2:c.2191+271_2191+272insGTGGCTG	ENSP00000453513.2:n.2191+271_2191+272insGTGGCTG
ENST00000558518.6:c.2311+271_2311+272insGTGGCTG MANE Select	ENSP00000454071.1:n.2311+271_2311+272insGTGGCTG
ENST00000252444.9:c.2565+271_2565+272insGTGGCTG
ENST00000455727.6:c.1807+271_1807+272insGTGGCTG	ENSP00000397829.2:n.1807+271_1807+272insGTGGCTG
ENST00000535915.5:c.2188+271_2188+272insGTGGCTG	ENSP00000440520.1:n.2188+271_2188+272insGTGGCTG
ENST00000545707.5:c.1777+271_1777+272insGTGGCTG	ENSP00000437639.1:n.1777+271_1777+272insGTGGCTG
ENST00000557933.5:c.2311+271_2311+272insGTGGCTG	ENSP00000453557.1:n.2311+271_2311+272insGTGGCTG
ENST00000558013.5:c.2311+271_2311+272insGTGGCTG	ENSP00000453346.1:n.2311+271_2311+272insGTGGCTG
ENST00000558518.5:c.2311+271_2311+272insGTGGCTG	ENSP00000454071.1:n.2311+271_2311+272insGTGGCTG
NM_000527.4:c.2311+271_2311+272insGTGGCTG , LRG_274t1:c.2311+271_2311+272insGTGGCTG	NP_000518.1:n.2311+271_2311+272insGTGGCTG
NM_001195798.1:c.2311+271_2311+272insGTGGCTG	NP_001182727.1:n.2311+271_2311+272insGTGGCTG
NM_001195799.1:c.2188+271_2188+272insGTGGCTG	NP_001182728.1:n.2188+271_2188+272insGTGGCTG
NM_001195800.1:c.1807+271_1807+272insGTGGCTG	NP_001182729.1:n.1807+271_1807+272insGTGGCTG
NM_001195803.1:c.1777+271_1777+272insGTGGCTG	NP_001182732.1:n.1777+271_1777+272insGTGGCTG
XM_011528010.1:c.2311+271_2311+272insGTGGCTG	XP_011526312.1:n.2311+271_2311+272insGTGGCTG
XM_011528011.1:c.1930+271_1930+272insGTGGCTG	XP_011526313.1:n.1930+271_1930+272insGTGGCTG
XR_244074.2:n.2321+271_2321+272insGTGGCTG
XM_011528010.2:c.2311+271_2311+272insGTGGCTG	XP_011526312.1:n.2311+271_2311+272insGTGGCTG
XR_001753685.2:n.2645+271_2645+272insGTGGCTG
XR_001753686.2:n.2288+271_2288+272insGTGGCTG
NM_000527.5:c.2311+271_2311+272insGTGGCTG MANE Select	NP_000518.1:n.2311+271_2311+272insGTGGCTG
NM_001195798.2:c.2311+271_2311+272insGTGGCTG	NP_001182727.1:n.2311+271_2311+272insGTGGCTG
NM_001195799.2:c.2188+271_2188+272insGTGGCTG	NP_001182728.1:n.2188+271_2188+272insGTGGCTG
NM_001195800.2:c.1807+271_1807+272insGTGGCTG	NP_001182729.1:n.1807+271_1807+272insGTGGCTG
NM_001195803.2:c.1777+271_1777+272insGTGGCTG	NP_001182732.1:n.1777+271_1777+272insGTGGCTG