Canonical Allele Identifier: CA1519939606

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288075_186288077delinsCTT , CM000666.2:g.186288075_186288077delinsCTT GRCh38
NC_000004.11:g.187209229_187209231delinsCTT , CM000666.1:g.187209229_187209231delinsCTT GRCh37
NC_000004.10:g.187446223_187446225delinsCTT NCBI36
NG_008051.1:g.27112_27114delinsCTT , LRG_583:g.27112_27114delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1716+252_1716+254delinsCTT (F11) MANE Select ENSP00000384957.2:n.1716+252_1716+254delinsCTT
ENST00000264691.4:c.316+252_316+254delinsCTT (F11)
ENST00000264692.8:c.1554+252_1554+254delinsCTT (F11) ENSP00000264692.5:n.1554+252_1554+254delinsCTT
ENST00000403665.6:c.1716+252_1716+254delinsCTT (F11) ENSP00000384957.2:n.1716+252_1716+254delinsCTT
ENST00000503841.1:n.235+252_235+254delinsCTT (F11)
NM_000128.3:c.1716+252_1716+254delinsCTT , LRG_583t1:c.1716+252_1716+254delinsCTT (F11) NP_000119.1:n.1716+252_1716+254delinsCTT
NR_033900.1:n.1066+351_1066+353delinsAAG (F11-AS1)
XM_005262821.2:c.1719+252_1719+254delinsCTT (F11) XP_005262878.1:n.1719+252_1719+254delinsCTT
XM_005262822.2:c.1623+252_1623+254delinsCTT (F11) XP_005262879.1:n.1623+252_1623+254delinsCTT
XM_005262823.2:c.1449+252_1449+254delinsCTT (F11) XP_005262880.1:n.1449+252_1449+254delinsCTT
XM_006714137.1:c.1671+252_1671+254delinsCTT (F11) XP_006714200.1:n.1671+252_1671+254delinsCTT
XM_005262821.4:c.1719+252_1719+254delinsCTT (F11) XP_005262878.1:n.1719+252_1719+254delinsCTT
XM_005262822.4:c.1623+252_1623+254delinsCTT (F11) XP_005262879.1:n.1623+252_1623+254delinsCTT
XM_005262823.4:c.1449+252_1449+254delinsCTT (F11) XP_005262880.1:n.1449+252_1449+254delinsCTT
XM_006714137.3:c.1671+252_1671+254delinsCTT (F11) XP_006714200.1:n.1671+252_1671+254delinsCTT
NM_000128.4:c.1716+252_1716+254delinsCTT (F11) MANE Select NP_000119.1:n.1716+252_1716+254delinsCTT