Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570348_48570349del , CM000665.2:g.48570348_48570349del	GRCh38
NC_000003.11:g.48607781_48607782del , CM000665.1:g.48607781_48607782del	GRCh37
NC_000003.10:g.48582785_48582786del	NCBI36
NG_007065.1:g.29904_29905del , LRG_286:g.29904_29905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7381-15_7381-14del MANE Select	ENSP00000506558.1:n.7381-15_7381-14del
ENST00000328333.12:c.7381-15_7381-14del	ENSP00000332371.8:n.7381-15_7381-14del
ENST00000422991.1:c.376-15_376-14del	ENSP00000391608.1:n.376-15_376-14del
ENST00000459756.5:n.93_94del
ENST00000467985.1:n.131-15_131-14del
ENST00000487017.5:n.4020-15_4020-14del
NM_000094.3:c.7381-15_7381-14del , LRG_286t1:c.7381-15_7381-14del	NP_000085.1:n.7381-15_7381-14del
XM_011533336.1:c.7408-15_7408-14del	XP_011531638.1:n.7408-15_7408-14del
XM_011533337.1:c.7381-15_7381-14del	XP_011531639.1:n.7381-15_7381-14del
XM_011533338.1:c.7407+116_7407+117del	XP_011531640.1:n.7407+116_7407+117del
XM_011533339.1:c.7408-15_7408-14del	XP_011531641.1:n.7408-15_7408-14del
XM_011533340.1:c.7408-97_7408-96del	XP_011531642.1:n.7408-97_7408-96del
XM_011533341.1:c.7382-97_7382-96del	XP_011531643.1:n.7382-97_7382-96del
XM_011533342.1:c.7381+116_7381+117del	XP_011531644.1:n.7381+116_7381+117del
XR_940369.1:n.7444-15_7444-14del
XR_940370.1:n.7444-15_7444-14del
XR_940371.1:n.7444-15_7444-14del
XR_940372.1:n.7418-15_7418-14del
XM_017005688.1:c.7380+116_7380+117del	XP_016861177.1:n.7380+116_7380+117del
XM_017005689.1:c.7381-15_7381-14del	XP_016861178.1:n.7381-15_7381-14del
XM_017005690.1:c.7381-97_7381-96del	XP_016861179.1:n.7381-97_7381-96del
XM_017005691.1:c.7355-97_7355-96del	XP_016861180.1:n.7355-97_7355-96del
XM_017005692.1:c.7354+116_7354+117del	XP_016861181.1:n.7354+116_7354+117del
XR_001740003.1:n.7417-15_7417-14del
XR_001740004.1:n.7417-15_7417-14del
XR_001740005.1:n.7417-15_7417-14del
XR_001740006.1:n.7391-15_7391-14del
NM_000094.4:c.7381-15_7381-14del MANE Select	NP_000085.1:n.7381-15_7381-14del