Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100399_11100400del , CM000681.2:g.11100399_11100400del	GRCh38
NC_000019.9:g.11211075_11211076del , CM000681.1:g.11211075_11211076del	GRCh37
NC_000019.8:g.11072075_11072076del	NCBI36
NG_009060.1:g.16019_16020del , LRG_274:g.16019_16020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.448+54_448+55del	ENSP00000252444.6:n.448+54_448+55del
ENST00000559340.2:c.190+54_190+55del	ENSP00000453696.2:n.190+54_190+55del
ENST00000560467.2:c.190+54_190+55del	ENSP00000453513.2:n.190+54_190+55del
ENST00000558518.6:c.190+54_190+55del MANE Select	ENSP00000454071.1:n.190+54_190+55del
ENST00000252444.9:c.444+54_444+55del
ENST00000455727.6:c.190+54_190+55del	ENSP00000397829.2:n.190+54_190+55del
ENST00000535915.5:c.190+54_190+55del	ENSP00000440520.1:n.190+54_190+55del
ENST00000545707.5:c.190+54_190+55del	ENSP00000437639.1:n.190+54_190+55del
ENST00000557933.5:c.190+54_190+55del	ENSP00000453557.1:n.190+54_190+55del
ENST00000557958.1:n.276+54_276+55del
ENST00000558013.5:c.190+54_190+55del	ENSP00000453346.1:n.190+54_190+55del
ENST00000558518.5:c.190+54_190+55del	ENSP00000454071.1:n.190+54_190+55del
ENST00000560502.5:n.330_331del
NM_000527.4:c.190+54_190+55del , LRG_274t1:c.190+54_190+55del	NP_000518.1:n.190+54_190+55del
NM_001195798.1:c.190+54_190+55del	NP_001182727.1:n.190+54_190+55del
NM_001195799.1:c.190+54_190+55del	NP_001182728.1:n.190+54_190+55del
NM_001195800.1:c.190+54_190+55del	NP_001182729.1:n.190+54_190+55del
NM_001195803.1:c.190+54_190+55del	NP_001182732.1:n.190+54_190+55del
XM_011528010.1:c.190+54_190+55del	XP_011526312.1:n.190+54_190+55del
XM_011528011.1:c.190+54_190+55del	XP_011526313.1:n.190+54_190+55del
XR_244074.2:n.340+54_340+55del
XM_011528010.2:c.190+54_190+55del	XP_011526312.1:n.190+54_190+55del
XR_001753685.2:n.307+54_307+55del
XR_001753686.2:n.307+54_307+55del
NM_000527.5:c.190+54_190+55del MANE Select	NP_000518.1:n.190+54_190+55del
NM_001195798.2:c.190+54_190+55del	NP_001182727.1:n.190+54_190+55del
NM_001195799.2:c.190+54_190+55del	NP_001182728.1:n.190+54_190+55del
NM_001195800.2:c.190+54_190+55del	NP_001182729.1:n.190+54_190+55del
NM_001195803.2:c.190+54_190+55del	NP_001182732.1:n.190+54_190+55del