Canonical Allele Identifier: CA2672901756

Gene: F11

Linked Data

• gnomAD v4: 4-186274584-CTTCCCAGTCTAAAAAATGTTACAGTCTAACAGAATAAAAATAAAAACCTACTCTCTCTCTCTCTAAATAACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186274589_186274661del , CM000666.2:g.186274589_186274661del	GRCh38
NC_000004.11:g.187195743_187195815del , CM000666.1:g.187195743_187195815del	GRCh37
NC_000004.10:g.187432737_187432809del	NCBI36
NG_008051.1:g.13626_13698del , LRG_583:g.13626_13698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.485+314_485+386del MANE Select	ENSP00000384957.2:n.485+314_485+386del
ENST00000264692.8:c.324-1198_324-1126del	ENSP00000264692.5:n.324-1198_324-1126del
ENST00000403665.6:c.485+314_485+386del	ENSP00000384957.2:n.485+314_485+386del
ENST00000492972.6:c.*310_*382del	ENSP00000424479.1:n.*310_*382del
NM_000128.3:c.485+314_485+386del , LRG_583t1:c.485+314_485+386del	NP_000119.1:n.485+314_485+386del
XM_005262821.2:c.485+314_485+386del	XP_005262878.1:n.485+314_485+386del
XM_005262822.2:c.485+314_485+386del	XP_005262879.1:n.485+314_485+386del
XM_005262823.2:c.485+314_485+386del	XP_005262880.1:n.485+314_485+386del
XM_005262824.1:c.485+314_485+386del	XP_005262881.1:n.485+314_485+386del
XM_006714137.1:c.485+314_485+386del	XP_006714200.1:n.485+314_485+386del
XR_938706.1:n.837+314_837+386del
XR_938707.1:n.837+314_837+386del
NM_001354804.1:c.*310_*382del	NP_001341733.1:n.*310_*382del
XM_005262821.4:c.485+314_485+386del	XP_005262878.1:n.485+314_485+386del
XM_005262822.4:c.485+314_485+386del	XP_005262879.1:n.485+314_485+386del
XM_005262823.4:c.485+314_485+386del	XP_005262880.1:n.485+314_485+386del
XM_006714137.3:c.485+314_485+386del	XP_006714200.1:n.485+314_485+386del
XM_017007884.2:c.485+314_485+386del	XP_016863373.1:n.485+314_485+386del
XM_017007885.2:c.485+314_485+386del	XP_016863374.1:n.485+314_485+386del
XM_017007886.2:c.485+314_485+386del	XP_016863375.1:n.485+314_485+386del
XR_001741172.2:n.818+314_818+386del
NM_000128.4:c.485+314_485+386del MANE Select	NP_000119.1:n.485+314_485+386del
NM_001354804.2:c.*310_*382del	NP_001341733.1:n.*310_*382del