Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102098_11102099insGGGGGGTTG , CM000681.2:g.11102098_11102099insGGGGGGTTG	GRCh38
NC_000019.9:g.11212774_11212775insGGGGGGTTG , CM000681.1:g.11212774_11212775insGGGGGGTTG	GRCh37
NC_000019.8:g.11073774_11073775insGGGGGGTTG	NCBI36
NG_009060.1:g.17718_17719insGGGGGGTTG , LRG_274:g.17718_17719insGGGGGGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.449-566_449-565insGGGGGGTTG	ENSP00000252444.6:n.449-566_449-565insGGGGGGTTG
ENST00000559340.2:c.191-566_191-565insGGGGGGTTG	ENSP00000453696.2:n.191-566_191-565insGGGGGGTTG
ENST00000560467.2:c.191-566_191-565insGGGGGGTTG	ENSP00000453513.2:n.191-566_191-565insGGGGGGTTG
ENST00000558518.6:c.191-566_191-565insGGGGGGTTG MANE Select	ENSP00000454071.1:n.191-566_191-565insGGGGGGTTG
ENST00000252444.9:c.445-566_445-565insGGGGGGTTG
ENST00000455727.6:c.191-566_191-565insGGGGGGTTG	ENSP00000397829.2:n.191-566_191-565insGGGGGGTTG
ENST00000535915.5:c.190+1753_190+1754insGGGGGGTTG	ENSP00000440520.1:n.190+1753_190+1754insGGGGGGTTG
ENST00000545707.5:c.191-566_191-565insGGGGGGTTG	ENSP00000437639.1:n.191-566_191-565insGGGGGGTTG
ENST00000557933.5:c.191-566_191-565insGGGGGGTTG	ENSP00000453557.1:n.191-566_191-565insGGGGGGTTG
ENST00000557958.1:n.277-566_277-565insGGGGGGTTG
ENST00000558013.5:c.191-566_191-565insGGGGGGTTG	ENSP00000453346.1:n.191-566_191-565insGGGGGGTTG
ENST00000558518.5:c.191-566_191-565insGGGGGGTTG	ENSP00000454071.1:n.191-566_191-565insGGGGGGTTG
NM_000527.4:c.191-566_191-565insGGGGGGTTG , LRG_274t1:c.191-566_191-565insGGGGGGTTG	NP_000518.1:n.191-566_191-565insGGGGGGTTG
NM_001195798.1:c.191-566_191-565insGGGGGGTTG	NP_001182727.1:n.191-566_191-565insGGGGGGTTG
NM_001195799.1:c.190+1753_190+1754insGGGGGGTTG	NP_001182728.1:n.190+1753_190+1754insGGGGGGTTG
NM_001195800.1:c.191-566_191-565insGGGGGGTTG	NP_001182729.1:n.191-566_191-565insGGGGGGTTG
NM_001195803.1:c.191-566_191-565insGGGGGGTTG	NP_001182732.1:n.191-566_191-565insGGGGGGTTG
XM_011528010.1:c.191-566_191-565insGGGGGGTTG	XP_011526312.1:n.191-566_191-565insGGGGGGTTG
XM_011528011.1:c.191-566_191-565insGGGGGGTTG	XP_011526313.1:n.191-566_191-565insGGGGGGTTG
XR_244074.2:n.341-566_341-565insGGGGGGTTG
XM_011528010.2:c.191-566_191-565insGGGGGGTTG	XP_011526312.1:n.191-566_191-565insGGGGGGTTG
XR_001753685.2:n.308-566_308-565insGGGGGGTTG
XR_001753686.2:n.308-566_308-565insGGGGGGTTG
NM_000527.5:c.191-566_191-565insGGGGGGTTG MANE Select	NP_000518.1:n.191-566_191-565insGGGGGGTTG
NM_001195798.2:c.191-566_191-565insGGGGGGTTG	NP_001182727.1:n.191-566_191-565insGGGGGGTTG
NM_001195799.2:c.190+1753_190+1754insGGGGGGTTG	NP_001182728.1:n.190+1753_190+1754insGGGGGGTTG
NM_001195800.2:c.191-566_191-565insGGGGGGTTG	NP_001182729.1:n.191-566_191-565insGGGGGGTTG
NM_001195803.2:c.191-566_191-565insGGGGGGTTG	NP_001182732.1:n.191-566_191-565insGGGGGGTTG