Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089486_88089488del , CM000674.2:g.88089486_88089488del	GRCh38
NC_000012.11:g.88483263_88483265del , CM000674.1:g.88483263_88483265del	GRCh37
NC_000012.10:g.87007394_87007396del	NCBI36
NG_008417.1:g.57729_57731del
NG_008417.2:g.57729_57731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3574-1_3575del
ENST00000547691.8:c.858-1_859del
ENST00000552810.6:c.3574-1_3575del
ENST00000672414.2:c.1745-1_1746del
ENST00000672647.1:n.1934-1_1935del
ENST00000673058.2:c.3574-1_3575del
ENST00000674971.1:c.3574-1_3575del
ENST00000675089.1:c.399-1_400del
ENST00000675230.1:c.3553-1_3554del
ENST00000675408.1:c.3574-1_3575del
ENST00000675476.1:c.4435-1_4436del
ENST00000675628.1:n.3801-1_3802del
ENST00000675794.1:c.1745-1_1746del
ENST00000675833.1:c.4342-1_4343del
ENST00000676074.1:c.3574-1_3575del
ENST00000676181.1:n.2501_2503del
ENST00000676363.1:n.9300-1_9301del
ENST00000676448.1:c.1487-1_1488del
ENST00000309041.11:c.3580-1_3581del
ENST00000547691.6:c.754-1_755del
ENST00000552810.5:c.3574-1_3575del
NM_025114.3:c.3574-1_3575del
XM_011538756.1:c.4435-1_4436del
XM_011538757.1:c.4435-1_4436del
XM_011538758.1:c.4435-1_4436del
XM_011538759.1:c.4435-1_4436del
XM_011538760.1:c.4435-1_4436del
XM_011538761.1:c.4435-1_4436del
XM_011538762.1:c.3667-1_3668del
XM_011538763.1:c.3574-1_3575del
XM_011538764.1:c.4435-1_4436del
XM_011538765.1:c.4435-1_4436del
XM_011538766.1:c.2896-1_2897del
XM_011538756.3:c.4435-1_4436del
XM_011538757.3:c.4435-1_4436del
XM_011538758.3:c.4435-1_4436del
XM_011538759.2:c.4435-1_4436del
XM_011538760.2:c.4435-1_4436del
XM_011538761.2:c.4435-1_4436del
XM_011538762.3:c.3667-1_3668del
XM_011538763.3:c.3574-1_3575del
XM_011538764.3:c.4435-1_4436del
XM_011538765.3:c.4435-1_4436del
XM_011538766.3:c.2896-1_2897del
XM_017019980.2:c.4435-1_4436del
XM_017019981.2:c.4435-1_4436del
XM_017019982.1:c.4435-1_4436del
XM_017019983.2:c.3553-1_3554del
XR_001748869.1:n.4779-1_4780del
XR_001748870.2:n.4779-1_4780del
NM_025114.4:c.3574-1_3575del