Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186286365_186286368delinsAGAG , CM000666.2:g.186286365_186286368delinsAGAG	GRCh38
NC_000004.11:g.187207519_187207522delinsAGAG , CM000666.1:g.187207519_187207522delinsAGAG	GRCh37
NC_000004.10:g.187444513_187444516delinsAGAG	NCBI36
NG_008051.1:g.25402_25405delinsAGAG , LRG_583:g.25402_25405delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1481-50_1481-47delinsAGAG (F11) MANE Select	ENSP00000384957.2:n.1481-50_1481-47delinsAGAG
ENST00000264691.4:c.176+552_176+555delinsAGAG (F11)
ENST00000264692.8:c.1319-50_1319-47delinsAGAG (F11)	ENSP00000264692.5:n.1319-50_1319-47delinsAGAG
ENST00000403665.6:c.1481-50_1481-47delinsAGAG (F11)	ENSP00000384957.2:n.1481-50_1481-47delinsAGAG
NM_000128.3:c.1481-50_1481-47delinsAGAG , LRG_583t1:c.1481-50_1481-47delinsAGAG (F11)	NP_000119.1:n.1481-50_1481-47delinsAGAG
NR_033900.1:n.1067-102_1067-99delinsCTCT (F11-AS1)
XM_005262821.2:c.1484-50_1484-47delinsAGAG (F11)	XP_005262878.1:n.1484-50_1484-47delinsAGAG
XM_005262822.2:c.1483+552_1483+555delinsAGAG (F11)	XP_005262879.1:n.1483+552_1483+555delinsAGAG
XM_005262823.2:c.1214-50_1214-47delinsAGAG (F11)	XP_005262880.1:n.1214-50_1214-47delinsAGAG
XM_005262824.1:c.1484-181_1484-178delinsAGAG (F11)	XP_005262881.1:n.1484-181_1484-178delinsAGAG
XM_006714137.1:c.1436-50_1436-47delinsAGAG (F11)	XP_006714200.1:n.1436-50_1436-47delinsAGAG
XR_938706.1:n.1889-50_1889-47delinsAGAG (F11)
XR_938707.1:n.1888+552_1888+555delinsAGAG (F11)
XM_005262821.4:c.1484-50_1484-47delinsAGAG (F11)	XP_005262878.1:n.1484-50_1484-47delinsAGAG
XM_005262822.4:c.1483+552_1483+555delinsAGAG (F11)	XP_005262879.1:n.1483+552_1483+555delinsAGAG
XM_005262823.4:c.1214-50_1214-47delinsAGAG (F11)	XP_005262880.1:n.1214-50_1214-47delinsAGAG
XM_006714137.3:c.1436-50_1436-47delinsAGAG (F11)	XP_006714200.1:n.1436-50_1436-47delinsAGAG
XR_001741172.2:n.1955-50_1955-47delinsAGAG (F11)
NM_000128.4:c.1481-50_1481-47delinsAGAG (F11) MANE Select	NP_000119.1:n.1481-50_1481-47delinsAGAG