Canonical Allele Identifier: CA1519939524

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287913_186287914delinsGT , CM000666.2:g.186287913_186287914delinsGT GRCh38
NC_000004.11:g.187209067_187209068delinsGT , CM000666.1:g.187209067_187209068delinsGT GRCh37
NC_000004.10:g.187446061_187446062delinsGT NCBI36
NG_008051.1:g.26950_26951delinsGT , LRG_583:g.26950_26951delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1716+90_1716+91delinsGT (F11) MANE Select ENSP00000384957.2:n.1716+90_1716+91delinsGT
ENST00000264691.4:c.316+90_316+91delinsGT (F11)
ENST00000264692.8:c.1554+90_1554+91delinsGT (F11) ENSP00000264692.5:n.1554+90_1554+91delinsGT
ENST00000403665.6:c.1716+90_1716+91delinsGT (F11) ENSP00000384957.2:n.1716+90_1716+91delinsGT
ENST00000503841.1:n.235+90_235+91delinsGT (F11)
NM_000128.3:c.1716+90_1716+91delinsGT , LRG_583t1:c.1716+90_1716+91delinsGT (F11) NP_000119.1:n.1716+90_1716+91delinsGT
NR_033900.1:n.1066+514_1066+515delinsAC (F11-AS1)
XM_005262821.2:c.1719+90_1719+91delinsGT (F11) XP_005262878.1:n.1719+90_1719+91delinsGT
XM_005262822.2:c.1623+90_1623+91delinsGT (F11) XP_005262879.1:n.1623+90_1623+91delinsGT
XM_005262823.2:c.1449+90_1449+91delinsGT (F11) XP_005262880.1:n.1449+90_1449+91delinsGT
XM_006714137.1:c.1671+90_1671+91delinsGT (F11) XP_006714200.1:n.1671+90_1671+91delinsGT
XM_005262821.4:c.1719+90_1719+91delinsGT (F11) XP_005262878.1:n.1719+90_1719+91delinsGT
XM_005262822.4:c.1623+90_1623+91delinsGT (F11) XP_005262879.1:n.1623+90_1623+91delinsGT
XM_005262823.4:c.1449+90_1449+91delinsGT (F11) XP_005262880.1:n.1449+90_1449+91delinsGT
XM_006714137.3:c.1671+90_1671+91delinsGT (F11) XP_006714200.1:n.1671+90_1671+91delinsGT
NM_000128.4:c.1716+90_1716+91delinsGT (F11) MANE Select NP_000119.1:n.1716+90_1716+91delinsGT