Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51046538_51046540delinsAAT , CM000680.2:g.51046538_51046540delinsAAT	GRCh38
NC_000018.9:g.48572908_48572910delinsAAT , CM000680.1:g.48572908_48572910delinsAAT	GRCh37
NC_000018.8:g.46826906_46826908delinsAAT	NCBI36
NG_013013.2:g.83499_83501delinsAAT , LRG_318:g.83499_83501delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-127-382_-127-380delinsAAT	ENSP00000465878.2:n.-127-382_-127-380delinsAAT
ENST00000589076.6:c.-127-382_-127-380delinsAAT	ENSP00000466934.2:n.-127-382_-127-380delinsAAT
ENST00000589941.2:c.-127-382_-127-380delinsAAT	ENSP00000465874.2:n.-127-382_-127-380delinsAAT
ENST00000590061.2:c.-59-450_-59-448delinsAAT	ENSP00000464772.2:n.-59-450_-59-448delinsAAT
ENST00000593223.2:c.-127-382_-127-380delinsAAT	ENSP00000466118.2:n.-127-382_-127-380delinsAAT
ENST00000342988.8:c.-127-382_-127-380delinsAAT MANE Select	ENSP00000341551.3:n.-127-382_-127-380delinsAAT
ENST00000342988.7:c.-127-382_-127-380delinsAAT	ENSP00000341551.3:n.-127-382_-127-380delinsAAT
ENST00000398417.6:c.-127-382_-127-380delinsAAT	ENSP00000381452.1:n.-127-382_-127-380delinsAAT
ENST00000588256.1:n.335-382_335-380delinsAAT
ENST00000588860.5:c.-127-382_-127-380delinsAAT	ENSP00000465878.1:n.-127-382_-127-380delinsAAT
ENST00000589076.5:c.-127-382_-127-380delinsAAT	ENSP00000466934.1:n.-127-382_-127-380delinsAAT
ENST00000589941.1:c.-127-382_-127-380delinsAAT	ENSP00000465874.1:n.-127-382_-127-380delinsAAT
ENST00000590061.1:c.-59-450_-59-448delinsAAT	ENSP00000464772.1:n.-59-450_-59-448delinsAAT
ENST00000590722.2:c.158-382_158-380delinsAAT	ENSP00000465737.1:n.158-382_158-380delinsAAT
ENST00000591914.5:c.-127-382_-127-380delinsAAT	ENSP00000466941.1:n.-127-382_-127-380delinsAAT
ENST00000592911.5:n.28-2148_28-2146delinsAAT
NM_005359.5:c.-127-382_-127-380delinsAAT , LRG_318t1:c.-127-382_-127-380delinsAAT	NP_005350.1:n.-127-382_-127-380delinsAAT
NM_005359.6:c.-127-382_-127-380delinsAAT MANE Select	NP_005350.1:n.-127-382_-127-380delinsAAT