Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102749_11102753delinsCTT , CM000681.2:g.11102749_11102753delinsCTT	GRCh38
NC_000019.9:g.11213425_11213429delinsCTT , CM000681.1:g.11213425_11213429delinsCTT	GRCh37
NC_000019.8:g.11074425_11074429delinsCTT	NCBI36
NG_009060.1:g.18369_18373delinsCTT , LRG_274:g.18369_18373delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.534_538delinsCTT	ENSP00000252444.6:p.Gln178HisfsTer?
ENST00000559340.2:c.276_280delinsCTT	ENSP00000453696.2:p.Gln92HisfsTer?
ENST00000560467.2:c.276_280delinsCTT	ENSP00000453513.2:p.Gln92HisfsTer?
ENST00000558518.6:c.276_280delinsCTT MANE Select	ENSP00000454071.1:p.Gln92HisfsTer?
ENST00000252444.9:c.530_534delinsCTT
ENST00000455727.6:c.276_280delinsCTT	ENSP00000397829.2:p.Gln92HisfsTer?
ENST00000535915.5:c.190+2404_190+2408delinsCTT	ENSP00000440520.1:n.190+2404_190+2408delinsCTT
ENST00000545707.5:c.276_280delinsCTT	ENSP00000437639.1:p.Gln92HisfsTer20
ENST00000557933.5:c.276_280delinsCTT	ENSP00000453557.1:p.Gln92HisfsTer?
ENST00000557958.1:n.362_366delinsCTT
ENST00000558013.5:c.276_280delinsCTT	ENSP00000453346.1:p.Gln92HisfsTer?
ENST00000558518.5:c.276_280delinsCTT	ENSP00000454071.1:p.Gln92HisfsTer?
NM_000527.4:c.276_280delinsCTT , LRG_274t1:c.276_280delinsCTT	NP_000518.1:p.Gln92HisfsTer?
NM_001195798.1:c.276_280delinsCTT	NP_001182727.1:p.Gln92HisfsTer?
NM_001195799.1:c.190+2404_190+2408delinsCTT	NP_001182728.1:n.190+2404_190+2408delinsCTT
NM_001195800.1:c.276_280delinsCTT	NP_001182729.1:p.Gln92HisfsTer?
NM_001195803.1:c.276_280delinsCTT	NP_001182732.1:p.Gln92HisfsTer20
XM_011528010.1:c.276_280delinsCTT	XP_011526312.1:p.Gln92HisfsTer?
XM_011528011.1:c.276_280delinsCTT	XP_011526313.1:p.Gln92HisfsTer20
XR_244074.2:n.426_430delinsCTT
XM_011528010.2:c.276_280delinsCTT	XP_011526312.1:p.Gln92HisfsTer?
XR_001753685.2:n.393_397delinsCTT
XR_001753686.2:n.393_397delinsCTT
NM_000527.5:c.276_280delinsCTT MANE Select	NP_000518.1:p.Gln92HisfsTer?
NM_001195798.2:c.276_280delinsCTT	NP_001182727.1:p.Gln92HisfsTer?
NM_001195799.2:c.190+2404_190+2408delinsCTT	NP_001182728.1:n.190+2404_190+2408delinsCTT
NM_001195800.2:c.276_280delinsCTT	NP_001182729.1:p.Gln92HisfsTer?
NM_001195803.2:c.276_280delinsCTT	NP_001182732.1:p.Gln92HisfsTer20