Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120547_11120548delinsGT , CM000681.2:g.11120547_11120548delinsGT	GRCh38
NC_000019.9:g.11231223_11231224delinsGT , CM000681.1:g.11231223_11231224delinsGT	GRCh37
NC_000019.8:g.11092223_11092224delinsGT	NCBI36
NG_009060.1:g.36167_36168delinsGT , LRG_274:g.36167_36168delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2398+25_2398+26delinsGT	ENSP00000252444.6:n.2398+25_2398+26delinsGT
ENST00000559340.2:c.209+25_209+26delinsGT	ENSP00000453696.2:n.209+25_209+26delinsGT
ENST00000560467.2:c.2020+25_2020+26delinsGT	ENSP00000453513.2:n.2020+25_2020+26delinsGT
ENST00000558518.6:c.2140+25_2140+26delinsGT MANE Select	ENSP00000454071.1:n.2140+25_2140+26delinsGT
ENST00000252444.9:c.2394+25_2394+26delinsGT
ENST00000455727.6:c.1636+25_1636+26delinsGT	ENSP00000397829.2:n.1636+25_1636+26delinsGT
ENST00000535915.5:c.2017+25_2017+26delinsGT	ENSP00000440520.1:n.2017+25_2017+26delinsGT
ENST00000545707.5:c.1606+314_1606+315delinsGT	ENSP00000437639.1:n.1606+314_1606+315delinsGT
ENST00000557933.5:c.2140+25_2140+26delinsGT	ENSP00000453557.1:n.2140+25_2140+26delinsGT
ENST00000558013.5:c.2140+25_2140+26delinsGT	ENSP00000453346.1:n.2140+25_2140+26delinsGT
ENST00000558518.5:c.2140+25_2140+26delinsGT	ENSP00000454071.1:n.2140+25_2140+26delinsGT
NM_000527.4:c.2140+25_2140+26delinsGT , LRG_274t1:c.2140+25_2140+26delinsGT	NP_000518.1:n.2140+25_2140+26delinsGT
NM_001195798.1:c.2140+25_2140+26delinsGT	NP_001182727.1:n.2140+25_2140+26delinsGT
NM_001195799.1:c.2017+25_2017+26delinsGT	NP_001182728.1:n.2017+25_2017+26delinsGT
NM_001195800.1:c.1636+25_1636+26delinsGT	NP_001182729.1:n.1636+25_1636+26delinsGT
NM_001195803.1:c.1606+314_1606+315delinsGT	NP_001182732.1:n.1606+314_1606+315delinsGT
XM_011528010.1:c.2140+25_2140+26delinsGT	XP_011526312.1:n.2140+25_2140+26delinsGT
XM_011528011.1:c.1759+25_1759+26delinsGT	XP_011526313.1:n.1759+25_1759+26delinsGT
XR_244074.2:n.2150+25_2150+26delinsGT
XM_011528010.2:c.2140+25_2140+26delinsGT	XP_011526312.1:n.2140+25_2140+26delinsGT
XR_001753685.2:n.2282_2283delinsGT
XR_001753686.2:n.2117+25_2117+26delinsGT
NM_000527.5:c.2140+25_2140+26delinsGT MANE Select	NP_000518.1:n.2140+25_2140+26delinsGT
NM_001195798.2:c.2140+25_2140+26delinsGT	NP_001182727.1:n.2140+25_2140+26delinsGT
NM_001195799.2:c.2017+25_2017+26delinsGT	NP_001182728.1:n.2017+25_2017+26delinsGT
NM_001195800.2:c.1636+25_1636+26delinsGT	NP_001182729.1:n.1636+25_1636+26delinsGT
NM_001195803.2:c.1606+314_1606+315delinsGT	NP_001182732.1:n.1606+314_1606+315delinsGT