Canonical Allele Identifier: CA2764876908

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287882_186287883insTGT , CM000666.2:g.186287882_186287883insTGT GRCh38
NC_000004.11:g.187209036_187209037insTGT , CM000666.1:g.187209036_187209037insTGT GRCh37
NC_000004.10:g.187446030_187446031insTGT NCBI36
NG_008051.1:g.26919_26920insTGT , LRG_583:g.26919_26920insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1716+59_1716+60insTGT (F11) MANE Select ENSP00000384957.2:n.1716+59_1716+60insTGT
ENST00000264691.4:c.316+59_316+60insTGT (F11)
ENST00000264692.8:c.1554+59_1554+60insTGT (F11) ENSP00000264692.5:n.1554+59_1554+60insTGT
ENST00000403665.6:c.1716+59_1716+60insTGT (F11) ENSP00000384957.2:n.1716+59_1716+60insTGT
ENST00000503841.1:n.235+59_235+60insTGT (F11)
NM_000128.3:c.1716+59_1716+60insTGT , LRG_583t1:c.1716+59_1716+60insTGT (F11) NP_000119.1:n.1716+59_1716+60insTGT
NR_033900.1:n.1066+545_1066+546insACA (F11-AS1)
XM_005262821.2:c.1719+59_1719+60insTGT (F11) XP_005262878.1:n.1719+59_1719+60insTGT
XM_005262822.2:c.1623+59_1623+60insTGT (F11) XP_005262879.1:n.1623+59_1623+60insTGT
XM_005262823.2:c.1449+59_1449+60insTGT (F11) XP_005262880.1:n.1449+59_1449+60insTGT
XM_006714137.1:c.1671+59_1671+60insTGT (F11) XP_006714200.1:n.1671+59_1671+60insTGT
XM_005262821.4:c.1719+59_1719+60insTGT (F11) XP_005262878.1:n.1719+59_1719+60insTGT
XM_005262822.4:c.1623+59_1623+60insTGT (F11) XP_005262879.1:n.1623+59_1623+60insTGT
XM_005262823.4:c.1449+59_1449+60insTGT (F11) XP_005262880.1:n.1449+59_1449+60insTGT
XM_006714137.3:c.1671+59_1671+60insTGT (F11) XP_006714200.1:n.1671+59_1671+60insTGT
NM_000128.4:c.1716+59_1716+60insTGT (F11) MANE Select NP_000119.1:n.1716+59_1716+60insTGT