Canonical Allele Identifier: CA2519751153

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288071_186288079del , CM000666.2:g.186288071_186288079del GRCh38
NC_000004.11:g.187209225_187209233del , CM000666.1:g.187209225_187209233del GRCh37
NC_000004.10:g.187446219_187446227del NCBI36
NG_008051.1:g.27108_27116del , LRG_583:g.27108_27116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1716+248_1716+256del (F11) MANE Select ENSP00000384957.2:n.1716+248_1716+256del
ENST00000264691.4:c.316+248_316+256del (F11)
ENST00000264692.8:c.1554+248_1554+256del (F11) ENSP00000264692.5:n.1554+248_1554+256del
ENST00000403665.6:c.1716+248_1716+256del (F11) ENSP00000384957.2:n.1716+248_1716+256del
ENST00000503841.1:n.235+248_235+256del (F11)
NM_000128.3:c.1716+248_1716+256del , LRG_583t1:c.1716+248_1716+256del (F11) NP_000119.1:n.1716+248_1716+256del
NR_033900.1:n.1066+349_1066+357del (F11-AS1)
XM_005262821.2:c.1719+248_1719+256del (F11) XP_005262878.1:n.1719+248_1719+256del
XM_005262822.2:c.1623+248_1623+256del (F11) XP_005262879.1:n.1623+248_1623+256del
XM_005262823.2:c.1449+248_1449+256del (F11) XP_005262880.1:n.1449+248_1449+256del
XM_006714137.1:c.1671+248_1671+256del (F11) XP_006714200.1:n.1671+248_1671+256del
XM_005262821.4:c.1719+248_1719+256del (F11) XP_005262878.1:n.1719+248_1719+256del
XM_005262822.4:c.1623+248_1623+256del (F11) XP_005262879.1:n.1623+248_1623+256del
XM_005262823.4:c.1449+248_1449+256del (F11) XP_005262880.1:n.1449+248_1449+256del
XM_006714137.3:c.1671+248_1671+256del (F11) XP_006714200.1:n.1671+248_1671+256del
NM_000128.4:c.1716+248_1716+256del (F11) MANE Select NP_000119.1:n.1716+248_1716+256del