Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105447_11105448delinsTA , CM000681.2:g.11105447_11105448delinsTA	GRCh38
NC_000019.9:g.11216123_11216124delinsTA , CM000681.1:g.11216123_11216124delinsTA	GRCh37
NC_000019.8:g.11077123_11077124delinsTA	NCBI36
NG_009060.1:g.21067_21068delinsTA , LRG_274:g.21067_21068delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.799_800delinsTA	ENSP00000252444.6:p.Pro267Ter
ENST00000559340.2:c.541_542delinsTA	ENSP00000453696.2:p.Pro181Ter
ENST00000560467.2:c.541_542delinsTA	ENSP00000453513.2:p.Pro181Ter
ENST00000558518.6:c.541_542delinsTA MANE Select	ENSP00000454071.1:p.Pro181Ter
ENST00000252444.9:c.795_796delinsTA
ENST00000455727.6:c.314-1945_314-1944delinsTA	ENSP00000397829.2:n.314-1945_314-1944delinsTA
ENST00000535915.5:c.418_419delinsTA	ENSP00000440520.1:p.Pro140Ter
ENST00000545707.5:c.314-1118_314-1117delinsTA	ENSP00000437639.1:n.314-1118_314-1117delinsTA
ENST00000557933.5:c.541_542delinsTA	ENSP00000453557.1:p.Pro181Ter
ENST00000558013.5:c.541_542delinsTA	ENSP00000453346.1:p.Pro181Ter
ENST00000558518.5:c.541_542delinsTA	ENSP00000454071.1:p.Pro181Ter
ENST00000560467.1:c.141_142delinsTA
NM_000527.4:c.541_542delinsTA , LRG_274t1:c.541_542delinsTA	NP_000518.1:p.Pro181Ter
NM_001195798.1:c.541_542delinsTA	NP_001182727.1:p.Pro181Ter
NM_001195799.1:c.418_419delinsTA	NP_001182728.1:p.Pro140Ter
NM_001195800.1:c.314-1945_314-1944delinsTA	NP_001182729.1:n.314-1945_314-1944delinsTA
NM_001195803.1:c.314-1118_314-1117delinsTA	NP_001182732.1:n.314-1118_314-1117delinsTA
XM_011528010.1:c.541_542delinsTA	XP_011526312.1:p.Pro181Ter
XM_011528011.1:c.314-1118_314-1117delinsTA	XP_011526313.1:n.314-1118_314-1117delinsTA
XR_244074.2:n.691_692delinsTA
XM_011528010.2:c.541_542delinsTA	XP_011526312.1:p.Pro181Ter
XR_001753685.2:n.658_659delinsTA
XR_001753686.2:n.658_659delinsTA
NM_000527.5:c.541_542delinsTA MANE Select	NP_000518.1:p.Pro181Ter
NM_001195798.2:c.541_542delinsTA	NP_001182727.1:p.Pro181Ter
NM_001195799.2:c.418_419delinsTA	NP_001182728.1:p.Pro140Ter
NM_001195800.2:c.314-1945_314-1944delinsTA	NP_001182729.1:n.314-1945_314-1944delinsTA
NM_001195803.2:c.314-1118_314-1117delinsTA	NP_001182732.1:n.314-1118_314-1117delinsTA