Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105752_11105756delinsTTTTC , CM000681.2:g.11105752_11105756delinsTTTTC	GRCh38
NC_000019.9:g.11216428_11216432delinsTTTTC , CM000681.1:g.11216428_11216432delinsTTTTC	GRCh37
NC_000019.8:g.11077428_11077432delinsTTTTC	NCBI36
NG_009060.1:g.21372_21376delinsTTTTC , LRG_274:g.21372_21376delinsTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+152_952+156delinsTTTTC	ENSP00000252444.6:n.952+152_952+156delinsTTTTC
ENST00000559340.2:c.694+152_694+156delinsTTTTC	ENSP00000453696.2:n.694+152_694+156delinsTTTTC
ENST00000560467.2:c.694+152_694+156delinsTTTTC	ENSP00000453513.2:n.694+152_694+156delinsTTTTC
ENST00000558518.6:c.694+152_694+156delinsTTTTC MANE Select	ENSP00000454071.1:n.694+152_694+156delinsTTTTC
ENST00000252444.9:c.948+152_948+156delinsTTTTC
ENST00000455727.6:c.314-1640_314-1636delinsTTTTC	ENSP00000397829.2:n.314-1640_314-1636delinsTTTTC
ENST00000535915.5:c.571+152_571+156delinsTTTTC	ENSP00000440520.1:n.571+152_571+156delinsTTTTC
ENST00000545707.5:c.314-813_314-809delinsTTTTC	ENSP00000437639.1:n.314-813_314-809delinsTTTTC
ENST00000557933.5:c.694+152_694+156delinsTTTTC	ENSP00000453557.1:n.694+152_694+156delinsTTTTC
ENST00000558013.5:c.694+152_694+156delinsTTTTC	ENSP00000453346.1:n.694+152_694+156delinsTTTTC
ENST00000558518.5:c.694+152_694+156delinsTTTTC	ENSP00000454071.1:n.694+152_694+156delinsTTTTC
ENST00000560467.1:c.294+152_294+156delinsTTTTC
NM_000527.4:c.694+152_694+156delinsTTTTC , LRG_274t1:c.694+152_694+156delinsTTTTC	NP_000518.1:n.694+152_694+156delinsTTTTC
NM_001195798.1:c.694+152_694+156delinsTTTTC	NP_001182727.1:n.694+152_694+156delinsTTTTC
NM_001195799.1:c.571+152_571+156delinsTTTTC	NP_001182728.1:n.571+152_571+156delinsTTTTC
NM_001195800.1:c.314-1640_314-1636delinsTTTTC	NP_001182729.1:n.314-1640_314-1636delinsTTTTC
NM_001195803.1:c.314-813_314-809delinsTTTTC	NP_001182732.1:n.314-813_314-809delinsTTTTC
XM_011528010.1:c.694+152_694+156delinsTTTTC	XP_011526312.1:n.694+152_694+156delinsTTTTC
XM_011528011.1:c.314-813_314-809delinsTTTTC	XP_011526313.1:n.314-813_314-809delinsTTTTC
XR_244074.2:n.844+152_844+156delinsTTTTC
XM_011528010.2:c.694+152_694+156delinsTTTTC	XP_011526312.1:n.694+152_694+156delinsTTTTC
XR_001753685.2:n.811+152_811+156delinsTTTTC
XR_001753686.2:n.811+152_811+156delinsTTTTC
NM_000527.5:c.694+152_694+156delinsTTTTC MANE Select	NP_000518.1:n.694+152_694+156delinsTTTTC
NM_001195798.2:c.694+152_694+156delinsTTTTC	NP_001182727.1:n.694+152_694+156delinsTTTTC
NM_001195799.2:c.571+152_571+156delinsTTTTC	NP_001182728.1:n.571+152_571+156delinsTTTTC
NM_001195800.2:c.314-1640_314-1636delinsTTTTC	NP_001182729.1:n.314-1640_314-1636delinsTTTTC
NM_001195803.2:c.314-813_314-809delinsTTTTC	NP_001182732.1:n.314-813_314-809delinsTTTTC