Canonical Allele Identifier: CA1519939486

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287883_186287887delinsGTTTT , CM000666.2:g.186287883_186287887delinsGTTTT GRCh38
NC_000004.11:g.187209037_187209041delinsGTTTT , CM000666.1:g.187209037_187209041delinsGTTTT GRCh37
NC_000004.10:g.187446031_187446035delinsGTTTT NCBI36
NG_008051.1:g.26920_26924delinsGTTTT , LRG_583:g.26920_26924delinsGTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1716+60_1716+64delinsGTTTT (F11) MANE Select ENSP00000384957.2:n.1716+60_1716+64delinsGTTTT
ENST00000264691.4:c.316+60_316+64delinsGTTTT (F11)
ENST00000264692.8:c.1554+60_1554+64delinsGTTTT (F11) ENSP00000264692.5:n.1554+60_1554+64delinsGTTTT
ENST00000403665.6:c.1716+60_1716+64delinsGTTTT (F11) ENSP00000384957.2:n.1716+60_1716+64delinsGTTTT
ENST00000503841.1:n.235+60_235+64delinsGTTTT (F11)
NM_000128.3:c.1716+60_1716+64delinsGTTTT , LRG_583t1:c.1716+60_1716+64delinsGTTTT (F11) NP_000119.1:n.1716+60_1716+64delinsGTTTT
NR_033900.1:n.1066+541_1066+545delinsAAAAC (F11-AS1)
XM_005262821.2:c.1719+60_1719+64delinsGTTTT (F11) XP_005262878.1:n.1719+60_1719+64delinsGTTTT
XM_005262822.2:c.1623+60_1623+64delinsGTTTT (F11) XP_005262879.1:n.1623+60_1623+64delinsGTTTT
XM_005262823.2:c.1449+60_1449+64delinsGTTTT (F11) XP_005262880.1:n.1449+60_1449+64delinsGTTTT
XM_006714137.1:c.1671+60_1671+64delinsGTTTT (F11) XP_006714200.1:n.1671+60_1671+64delinsGTTTT
XM_005262821.4:c.1719+60_1719+64delinsGTTTT (F11) XP_005262878.1:n.1719+60_1719+64delinsGTTTT
XM_005262822.4:c.1623+60_1623+64delinsGTTTT (F11) XP_005262879.1:n.1623+60_1623+64delinsGTTTT
XM_005262823.4:c.1449+60_1449+64delinsGTTTT (F11) XP_005262880.1:n.1449+60_1449+64delinsGTTTT
XM_006714137.3:c.1671+60_1671+64delinsGTTTT (F11) XP_006714200.1:n.1671+60_1671+64delinsGTTTT
NM_000128.4:c.1716+60_1716+64delinsGTTTT (F11) MANE Select NP_000119.1:n.1716+60_1716+64delinsGTTTT