Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614581_57614587del , CM000673.2:g.57614581_57614587del	GRCh38
NC_000011.9:g.57382054_57382060del , CM000673.1:g.57382054_57382060del	GRCh37
NC_000011.8:g.57138630_57138636del	NCBI36
NG_009625.1:g.22028_22034del , LRG_105:g.22028_22034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1503_*6del MANE Select	ENSP00000278407.4:n.[c.1503_*6del;Ter501CysextTer?]
ENST00000528996.2:c.400_406del	ENSP00000431226.2:n.400_406del
ENST00000531605.2:c.1279_1285del	ENSP00000503752.1:n.1279_1285del
ENST00000619430.2:c.1299_*6del	ENSP00000478572.2:n.[c.1299_*6del;Ter433CysextTer?]
ENST00000676670.1:c.1503_*6del	ENSP00000504807.1:n.[c.1503_*6del;Ter501CysextTer30]
ENST00000676741.1:n.2585_2591del
ENST00000677624.1:c.923_929del	ENSP00000503979.1:n.923_929del
ENST00000677625.1:c.1449_*6del	ENSP00000502857.1:n.[c.1449_*6del;Ter483CysextTer?]
ENST00000677856.1:n.1756_1762del
ENST00000677915.1:c.400_406del	ENSP00000503118.1:n.400_406del
ENST00000678533.1:c.1057_1063del	ENSP00000503873.1:n.1057_1063del
ENST00000678592.1:c.443_449del	ENSP00000504424.1:n.443_449del
ENST00000278407.8:c.1503_*6del	ENSP00000278407.4:n.[c.1503_*6del;Ter501CysextTer?]
ENST00000340687.10:c.1392_*6del	ENSP00000341861.6:n.[c.1392_*6del;Ter464CysextTer?]
ENST00000378323.8:c.1518_*6del	ENSP00000367574.4:n.[c.1518_*6del;Ter506CysextTer?]
ENST00000378324.6:c.1347_*6del	ENSP00000367575.2:n.[c.1347_*6del;Ter449CysextTer?]
ENST00000403558.1:c.1632_*6del	ENSP00000384420.1:n.[c.1632_*6del;Ter544CysextTer?]
ENST00000528996.1:c.704_710del	ENSP00000431226.1:n.704_710del
ENST00000531797.5:c.528_534del	ENSP00000432554.1:n.528_534del
NM_000062.2:c.1503_6del , LRG_105t1:c.1503_6del	NP_000053.2:n.[c.1503_*6del;Ter501CysextTer?]
NM_001032295.1:c.1503_*6del	NP_001027466.1:n.[c.1503_*6del;Ter501CysextTer?]
NM_000062.3:c.1503_*6del MANE Select	NP_000053.2:n.[c.1503_*6del;Ter501CysextTer?]
NM_001032295.2:c.1503_*6del	NP_001027466.1:n.[c.1503_*6del;Ter501CysextTer?]