Canonical Allele Identifier: CA112105272

Linked Data

ClinVar Variation Id: 1285987
ClinVar RCV Id: RCV001709764
dbSNP Id: rs377566180

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287608_186287609del , CM000666.2:g.186287608_186287609del GRCh38
NC_000004.11:g.187208762_187208763del , CM000666.1:g.187208762_187208763del GRCh37
NC_000004.10:g.187445756_187445757del NCBI36
NG_008051.1:g.26645_26646del , LRG_583:g.26645_26646del

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1577-76_1577-75del (F11) MANE Select ENSP00000384957.2:n.1577-76_1577-75del
ENST00000264691.4:c.177-76_177-75del (F11)
ENST00000264692.8:c.1415-76_1415-75del (F11) ENSP00000264692.5:n.1415-76_1415-75del
ENST00000403665.6:c.1577-76_1577-75del (F11) ENSP00000384957.2:n.1577-76_1577-75del
ENST00000503841.1:n.20_21del (F11)
NM_000128.3:c.1577-76_1577-75del , LRG_583t1:c.1577-76_1577-75del (F11) NP_000119.1:n.1577-76_1577-75del
NR_033900.1:n.1066+835_1066+836del (F11-AS1)
XM_005262821.2:c.1580-76_1580-75del (F11) XP_005262878.1:n.1580-76_1580-75del
XM_005262822.2:c.1484-76_1484-75del (F11) XP_005262879.1:n.1484-76_1484-75del
XM_005262823.2:c.1310-76_1310-75del (F11) XP_005262880.1:n.1310-76_1310-75del
XM_006714137.1:c.1532-76_1532-75del (F11) XP_006714200.1:n.1532-76_1532-75del
XR_938706.1:n.1985-76_1985-75del (F11)
XR_938707.1:n.1889-76_1889-75del (F11)
XM_005262821.4:c.1580-76_1580-75del (F11) XP_005262878.1:n.1580-76_1580-75del
XM_005262822.4:c.1484-76_1484-75del (F11) XP_005262879.1:n.1484-76_1484-75del
XM_005262823.4:c.1310-76_1310-75del (F11) XP_005262880.1:n.1310-76_1310-75del
XM_006714137.3:c.1532-76_1532-75del (F11) XP_006714200.1:n.1532-76_1532-75del
NM_000128.4:c.1577-76_1577-75del (F11) MANE Select NP_000119.1:n.1577-76_1577-75del