Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908021_68908025del , CM000673.2:g.68908021_68908025del	GRCh38
NC_000011.9:g.68675489_68675493del , CM000673.1:g.68675489_68675493del	GRCh37
NC_000011.8:g.68432065_68432069del	NCBI36
NG_007976.1:g.9171_9175del , LRG_250:g.9171_9175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.257-124_257-120del MANE Select	ENSP00000255078.4:n.257-124_257-120del
ENST00000539224.2:c.220-124_220-120del
ENST00000674583.1:c.220-124_220-120del
ENST00000674597.1:c.68-124_68-120del
ENST00000674955.1:c.257-124_257-120del	ENSP00000502463.1:n.257-124_257-120del
ENST00000675142.1:n.220-124_220-120del
ENST00000675469.1:c.133-124_133-120del
ENST00000675615.1:c.257-124_257-120del	ENSP00000502413.1:n.257-124_257-120del
ENST00000675674.1:n.220-124_220-120del
ENST00000675873.1:c.220-124_220-120del
ENST00000676173.1:n.301-124_301-120del
ENST00000676228.1:c.257-124_257-120del	ENSP00000502375.1:n.257-124_257-120del
ENST00000255078.7:c.257-124_257-120del	ENSP00000255078.3:n.257-124_257-120del
ENST00000539224.1:c.257-124_257-120del	ENSP00000440465.1:n.257-124_257-120del
ENST00000544541.1:c.87-124_87-120del	ENSP00000443343.1:n.87-124_87-120del
ENST00000545146.1:c.127-124_127-120del	ENSP00000456366.1:n.127-124_127-120del
NM_002180.2:c.257-124_257-120del , LRG_250t1:c.257-124_257-120del	NP_002171.2:n.257-124_257-120del
XM_005273974.2:c.-755-124_-755-120del	XP_005274031.1:n.-755-124_-755-120del
XM_005273976.1:c.257-124_257-120del	XP_005274033.1:n.257-124_257-120del
XR_247198.1:n.359-124_359-120del
XR_949903.1:n.359-124_359-120del
XM_005273976.2:c.257-124_257-120del	XP_005274033.1:n.257-124_257-120del
XM_017017669.2:c.-657-124_-657-120del	XP_016873158.1:n.-657-124_-657-120del
XM_017017671.2:c.257-124_257-120del	XP_016873160.1:n.257-124_257-120del
XR_949903.3:n.355-124_355-120del
NM_002180.3:c.257-124_257-120del MANE Select	NP_002171.2:n.257-124_257-120del

Linked Data

Genomic Alleles

Transcript Alleles