Canonical Allele Identifier: CA1519939497

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287891_186287892delinsGT , CM000666.2:g.186287891_186287892delinsGT GRCh38
NC_000004.11:g.187209045_187209046delinsGT , CM000666.1:g.187209045_187209046delinsGT GRCh37
NC_000004.10:g.187446039_187446040delinsGT NCBI36
NG_008051.1:g.26928_26929delinsGT , LRG_583:g.26928_26929delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1716+68_1716+69delinsGT (F11) MANE Select ENSP00000384957.2:n.1716+68_1716+69delinsGT
ENST00000264691.4:c.316+68_316+69delinsGT (F11)
ENST00000264692.8:c.1554+68_1554+69delinsGT (F11) ENSP00000264692.5:n.1554+68_1554+69delinsGT
ENST00000403665.6:c.1716+68_1716+69delinsGT (F11) ENSP00000384957.2:n.1716+68_1716+69delinsGT
ENST00000503841.1:n.235+68_235+69delinsGT (F11)
NM_000128.3:c.1716+68_1716+69delinsGT , LRG_583t1:c.1716+68_1716+69delinsGT (F11) NP_000119.1:n.1716+68_1716+69delinsGT
NR_033900.1:n.1066+536_1066+537delinsAC (F11-AS1)
XM_005262821.2:c.1719+68_1719+69delinsGT (F11) XP_005262878.1:n.1719+68_1719+69delinsGT
XM_005262822.2:c.1623+68_1623+69delinsGT (F11) XP_005262879.1:n.1623+68_1623+69delinsGT
XM_005262823.2:c.1449+68_1449+69delinsGT (F11) XP_005262880.1:n.1449+68_1449+69delinsGT
XM_006714137.1:c.1671+68_1671+69delinsGT (F11) XP_006714200.1:n.1671+68_1671+69delinsGT
XM_005262821.4:c.1719+68_1719+69delinsGT (F11) XP_005262878.1:n.1719+68_1719+69delinsGT
XM_005262822.4:c.1623+68_1623+69delinsGT (F11) XP_005262879.1:n.1623+68_1623+69delinsGT
XM_005262823.4:c.1449+68_1449+69delinsGT (F11) XP_005262880.1:n.1449+68_1449+69delinsGT
XM_006714137.3:c.1671+68_1671+69delinsGT (F11) XP_006714200.1:n.1671+68_1671+69delinsGT
NM_000128.4:c.1716+68_1716+69delinsGT (F11) MANE Select NP_000119.1:n.1716+68_1716+69delinsGT